1,945 results match your criteria BMC Med. Genet.[Journal]


The CIMP-high phenotype is associated with energy metabolism alterations in colon adenocarcinoma.

BMC Med Genet 2019 Apr 9;20(Suppl 1):52. Epub 2019 Apr 9.

Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.

Background: CpG island methylator phenotype (CIMP) is found in 15-20% of malignant colorectal tumors and is characterized by strong CpG hypermethylation over the genome. The molecular mechanisms of this phenomenon are not still fully understood. The development of CIMP is followed by global gene expression alterations and metabolic changes. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0771-5DOI Listing
April 2019
8 Reads

Novel potential causative genes in carotid paragangliomas.

BMC Med Genet 2019 Apr 9;20(Suppl 1):48. Epub 2019 Apr 9.

Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.

Background: Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from the paraganglion at the bifurcation of the carotid artery and are responsible for approximately 65% of all head and neck paragangliomas. CPGLs can occur sporadically or along with different hereditary tumor syndromes. Approximately 30 genes are known to be associated with CPGLs. Read More

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http://dx.doi.org/10.1186/s12881-019-0770-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454587PMC

A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia.

BMC Med Genet 2019 Apr 9;20(Suppl 1):47. Epub 2019 Apr 9.

Mental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, Aleutskaya str., 4, Tomsk, Russian Federation, 634014.

Background: Hyperprolactinemia (HPRL) is a classical side effect of antipsychotic drugs primarily attributed to blockade of dopamine D2 receptors (DRD2s) on the membranes of lactotroph cells within the pituitary gland. Certain antipsychotic drugs, e.g. Read More

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http://dx.doi.org/10.1186/s12881-019-0773-3DOI Listing
April 2019
2 Reads

Medical genetics studies at BGRS conference series.

BMC Med Genet 2019 Apr 9;20(Suppl 1):50. Epub 2019 Apr 9.

Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics SB RAS, 630090, Novosibirsk, Russia.

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http://dx.doi.org/10.1186/s12881-019-0769-zDOI Listing

Exome-wide survey of the Siberian Caucasian population.

BMC Med Genet 2019 Apr 9;20(Suppl 1):51. Epub 2019 Apr 9.

The Federal Research Center Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences, Lavrentieva 10 St, Novosibirsk, Russia, 630090.

Background: Population structure is an important factor in the genetic association studies but often remains underexplored for many human populations. We identified exome variants in 39 Siberian Caucasian individuals from Novosibirsk, Russia and compared their genetic allele frequencies with European populations from 1000 Genomes Project.

Methods: The study participants were from Novosibirsk and represented people with monogenic diabetes, healthy individuals and a cohort from the tick-borne encephalitis study. Read More

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http://dx.doi.org/10.1186/s12881-019-0772-4DOI Listing

Vitamin D treatment differentially affects anxiety-like behavior in the old ovariectomized female rats and old ovariectomized female rats treated with low dose of 17β-estradiol.

Authors:
Julia O Fedotova

BMC Med Genet 2019 Apr 9;20(Suppl 1):49. Epub 2019 Apr 9.

ITMO University, Saint-Petersburg, Russia.

Background: Estrogen deficiency effects on affective-related behavior are restricted to certain periods of age after ovary removal. Among other nutraceuticals, one of such «natural» substances for treatment of affective-related diseases could be vitamin D. It is a great interest to evaluate the effects of repeated cholecalciferol administration on anxiety-related behavior in the old female rats with long-term estrogen deficiency. Read More

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http://dx.doi.org/10.1186/s12881-019-0774-2DOI Listing
April 2019
1 Read

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

BMC Med Genet 2019 Apr 8;20(1):62. Epub 2019 Apr 8.

Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

Background: Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an identical nonsense variant. Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype. Read More

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http://dx.doi.org/10.1186/s12881-019-0795-xDOI Listing

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.

BMC Med Genet 2019 Apr 5;20(1):60. Epub 2019 Apr 5.

Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, 28 Fuxing Road, Beijing, 100853, China.

Background: MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2, which cause a milder auditory phenotype, suggesting a genotype-phenotype correlation of MYO15A. However, MYO15A variants not in exon 2 related to a milder phenotype have also been reported, indicating that the genotype-phenotype correlation of MYO15A is complicated. Read More

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http://dx.doi.org/10.1186/s12881-019-0790-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451310PMC

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).

BMC Med Genet 2019 Apr 5;20(1):61. Epub 2019 Apr 5.

Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Syggrou Av, 356, 176 74, Athens, Greece.

Background: Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.

Case Presentation: Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutation: NM_000363.4:c. Read More

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http://dx.doi.org/10.1186/s12881-019-0793-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451262PMC
April 2019
6 Reads

Association between KIF1B rs17401966 genetic polymorphism and hepatocellular carcinoma susceptibility: an updated meta-analysis.

BMC Med Genet 2019 Apr 4;20(1):59. Epub 2019 Apr 4.

Institute for Viral Hepatitis, Key Laboratory of Molecular Biology on Infectious Diseases, Ministry of Education, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Background: Several studies have focused on the association between KIF1B rs17401966 polymorphism and susceptibility to hepatitis B virus-related (HBV-related) hepatocellular carcinoma (HCC), but the conclusions have been inconsistent. We have conducted this updated meta-analysis to explore the association between KIF1B rs17401966 polymorphism and HCC susceptibility.

Methods: Eligible studies were identified through systematic searches in PubMed, OVID, ISI Web of Science, Chinese National Knowledge Infrastructure, and Wanfang databases. Read More

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http://dx.doi.org/10.1186/s12881-019-0778-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449895PMC
April 2019
3 Reads

A cis-eQTL allele regulating reduced expression of CHI3L1 is associated with late-onset adult asthma in Japanese cohorts.

BMC Med Genet 2019 Apr 2;20(1):58. Epub 2019 Apr 2.

Department of Pulmonary Medicine, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki, 305-8575, Japan.

Background: The chitinase-like protein YKL-40 plays a major role in inhibiting the inflammasome. Deregulation of inflammasome activation is emerging as a key modulator of pathologic airway inflammation in patients with asthma. We determined whether cis-expression quantitative trait loci (eQTLs) of the gene that encodes YKL-40, chitinase 3-like 1 (CHI3L1), are involved in the onset of asthma or in specific asthma phenotypes. Read More

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http://dx.doi.org/10.1186/s12881-019-0786-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444873PMC
April 2019
2 Reads

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.

BMC Med Genet 2019 Apr 1;20(1):57. Epub 2019 Apr 1.

Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.

Background: Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has been associated with NSHL in two independent studies. However, its exact role in contributing to genetic hearing loss remains elusive. Read More

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http://dx.doi.org/10.1186/s12881-019-0775-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444877PMC

Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study.

BMC Med Genet 2019 Mar 29;20(1):55. Epub 2019 Mar 29.

Department of Epidemiology and Health Statistics, XiangYa School of Public Health, Central South University, Changsha, 410078, Hunan, China.

Background: RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic heterogeneity, we performed target exome sequencing of RNF213 with the aim to identify the rare variants spectrum and their association with ICASO in a Chinese population and further to explore whether the rare variants carrier patients present specific clinical phenotype. Read More

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http://dx.doi.org/10.1186/s12881-019-0788-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441181PMC

Weighted correlation network and differential expression analyses identify candidate genes associated with BRAF gene in melanoma.

BMC Med Genet 2019 Mar 29;20(1):54. Epub 2019 Mar 29.

School of Medicine, Xiamen University, Xiamen, Fujian, China.

Background: Primary cutaneous malignant melanoma is a cancer of the pigment cells of the skin, some of which are accompanied by BRAF mutation. Melanoma incidence and mortality rates have been rising around the world. As the current knowledge about pathogenesis, clinical and genetic features of cutaneous melanoma is not very clear, we aim to use bioinformatics to identify the potential key genes involved in the expression and mutation status of BRAF. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0791-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441238PMC
March 2019
3 Reads

A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.

BMC Med Genet 2019 Mar 29;20(1):56. Epub 2019 Mar 29.

Department of Endocrinology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Beijing, China.

Background: PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent phenotypes of GSD IXa. However, whether the phenotypes are applicable to Chinese patients remains unclear. Read More

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http://dx.doi.org/10.1186/s12881-019-0789-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441210PMC

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.

BMC Med Genet 2019 Mar 29;20(1):53. Epub 2019 Mar 29.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621, Tel-Hashomer, Israel.

Background: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although several hundred cases were reported worldwide, the diagnosis remains challenging. Subsequently, the syndrome is often unrecognized and misdiagnosed (for instance, as Juvenile Idiopathic Arthritis), leading to unnecessary procedures and treatments. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0787-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439983PMC
March 2019
4 Reads

Meta-analysis of associations of vascular endothelial growth factor protein levels and -634G/C polymorphism with systemic lupus erythematosus susceptibility.

BMC Med Genet 2019 Mar 22;20(1):46. Epub 2019 Mar 22.

Department of Nephrology, the Second Affiliated Hospital, Shantou University Medical College, No. 69 Dongsha Road, Shantou, 515041, China.

Background: The purpose of this study was to detect the effects of vascular endothelial growth factor (VEGF) on systemic lupus erythematosus (SLE) risk.

Methods: Associated studies were extracted from the China Biological Medicine Database (CBM), and PubMed on June 10, 2018, and applicable investigations were pooled and analyzed by meta-analysis using RevMan 5.3. Read More

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http://dx.doi.org/10.1186/s12881-019-0783-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431013PMC
March 2019
1 Read

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

BMC Med Genet 2019 Mar 21;20(1):44. Epub 2019 Mar 21.

Federal State Scientific Budgetary Institution "Research Centre for Medical Genetics", Moscow, Russia.

Background: Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The spectrum and frequencies of CFTR mutations vary among different populations. Characterization of the specific distribution of CFTR mutations can be used to optimize genetic counseling, foster reproductive choices, and facilitate the introduction of mutation-specific therapies. Read More

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http://dx.doi.org/10.1186/s12881-019-0785-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429818PMC
March 2019
2 Reads

An immunocompetent patient with a nonsense mutation in NHEJ1 gene.

BMC Med Genet 2019 Mar 21;20(1):45. Epub 2019 Mar 21.

Persian BayanGene Research and Training Center, Shiraz, Iran.

Background: DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of V(D)J recombination is the principle pathway for DSB repair in higher eukaryotes. Read More

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http://dx.doi.org/10.1186/s12881-019-0784-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429708PMC
March 2019
1 Read

A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.

BMC Med Genet 2019 Mar 20;20(1):43. Epub 2019 Mar 20.

Affiliated Hospital of Inner Mongolia University for the Nationalities, Tongliao, 028000, China.

Background: To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagnosis of this disease.

Methods: Family data were collected to draw a pedigree. Audiological testing and physical examination of the family members were conducted following questionnaire. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0781-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425609PMC
March 2019
5 Reads

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

BMC Med Genet 2019 Mar 20;20(1):42. Epub 2019 Mar 20.

Department of Ophthalmology and the Eye Institute, Eye and Ear, Nose, and Throat Hospital, Fudan University, 83 Fenyang Rd, Shanghai, People's Republic of China.

Background: Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract.

Methods: The proband and her parents underwent full ophthalmological examinations. Read More

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http://dx.doi.org/10.1186/s12881-019-0782-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425703PMC

X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.

BMC Med Genet 2019 Mar 19;20(1):41. Epub 2019 Mar 19.

Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, 610041, China.

Background: Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported.

Case Presentation: A 27-year-old man presented with CN and congenital cataracts and he underwent cataract extraction 2 weeks after birth. Read More

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http://dx.doi.org/10.1186/s12881-019-0780-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423883PMC
March 2019
2 Reads

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.

BMC Med Genet 2019 Mar 12;20(1):40. Epub 2019 Mar 12.

Child Neurology and Psychiatry, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.

Background: Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually subside during the first months of life. Although the diagnosis of Hyperekplexia is based on clinical findings, pathogenic variants in five genes have been reported to cause Hyperekplexia, of which GLRA1 accounts for about 80% of cases. Dominant and recessive mutations have been identified in GLRA1 gene as pathogenic variants in many individuals with the familial form of Hyperekplexia and occasionally in simplex cases. Read More

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http://dx.doi.org/10.1186/s12881-019-0779-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417078PMC

Effects of early- and mid-life stress on DNA methylation of genes associated with subclinical cardiovascular disease and cognitive impairment: a systematic review.

BMC Med Genet 2019 Mar 12;20(1):39. Epub 2019 Mar 12.

Department of Family & Community Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA.

Background: Traditional and novel risk factors cannot sufficiently explain the differential susceptibility to cardiovascular disease (CVD). Epigenetics may serve to partially explain this residual disparity, with life course stressors shown to modify methylation of genes implicated in various diseases. Subclinical CVD is often comorbid with cognitive impairment (CI), which warrants research into the identification of common genes for both conditions. Read More

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http://dx.doi.org/10.1186/s12881-019-0764-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417232PMC
March 2019
2.083 Impact Factor

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.

BMC Med Genet 2019 Mar 6;20(1):38. Epub 2019 Mar 6.

Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, 20892, USA.

Background: The KMT2A gene encoded lysine methyltransferase plays an essential role in regulating gene expression during early development and hematopoiesis. To date, 92 different mutations of KMT2A have been curated in the human gene mutation database (HGMD), resulting in Wiedemann-Steiner syndrome (WDSTS) and intellectual disability (ID)/developmental delay (DD).

Case Presentation: In this report, we present a de novo heterozygous deletion mutation [c. Read More

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http://dx.doi.org/10.1186/s12881-019-0776-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402113PMC
March 2019
1 Read

HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia.

BMC Med Genet 2019 Feb 26;20(1):37. Epub 2019 Feb 26.

Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.

Background: HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct against hypoxia signaling and HIF1A does not show clinical efficiency because of changeable oxygen concentrations in solid tumor areas. The identification of HIF1A targets expressed in both normoxia and hypoxia and of HIF1A/hypoxia signatures might meliorate the prognostic stratification and therapeutic successes in patients with high-risk solid tumors. Read More

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http://dx.doi.org/10.1186/s12881-019-0767-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390360PMC
February 2019
1 Read

Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis.

BMC Med Genet 2019 Feb 22;20(1):36. Epub 2019 Feb 22.

BC Children's Hospital Research Institute, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.

Background: Acute chorioamnionitis (aCA), inflammation of the placenta and fetal membranes, is a frequently reported lesion in preterm deliveries. Genetic variants in innate immune system genes such as Interleukin-6 (IL6) may contribute to the placenta's inflammatory response, thus predisposing some pregnancies to aCA. These genetic variants may modulate molecular processes such as DNA methylation and gene expression, and in turn might affect susceptibility to aCA. Read More

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http://dx.doi.org/10.1186/s12881-019-0768-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387541PMC
February 2019

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.

BMC Med Genet 2019 Feb 19;20(1):34. Epub 2019 Feb 19.

Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, China.

Background: Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin.

Case Presentation: We report a 30-year-old Chinese female patient who was diagnosed with chronic active Epstein-Barr virus infection more than 9 months prior and has since been presenting with cutaneous lymphoproliferative disorders mimicking hydroa vacciniforme and subsequent haemophagocytic lymphohistiocytosis. Read More

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http://dx.doi.org/10.1186/s12881-019-0765-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379998PMC
February 2019
1 Read
2.083 Impact Factor

The association between interleukin-6 gene -174G/C single nucleotide polymorphism and sepsis: an updated meta-analysis with trial sequential analysis.

BMC Med Genet 2019 Feb 19;20(1):35. Epub 2019 Feb 19.

Department of Emergency Medicine, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.

Background: This article intends to explore the association between interleukin-6 gene (IL-6) -174 G/C single nucleotide polymorphism (SNP) and the risk and mortality of sepsis by conducting this updated meta-analysis with trial sequential analysis.

Methods: References were made to PubMed, Web of Science, China National Knowledge Infrastructure for studies available by September 2018. Each publication was screened for its eligibility and data accessible. Read More

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http://dx.doi.org/10.1186/s12881-019-0766-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379942PMC
February 2019
1 Read
2.083 Impact Factor

A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease.

BMC Med Genet 2019 Feb 18;20(1):33. Epub 2019 Feb 18.

College of Life Science, Engineering Research Center of the Chinese Ministry of Education for Bioreactor and Pharmaceutical Development, Jilin Agricultural University, NO. 2888, XinCheng Avenue, Changchun, 130118, China.

Background: Genome-wide association studies (GWASs) of a large cohort of subjects with chronic obstructive pulmonary disease (COPD) have successfully identified multiple risk genes, including fibroblast growth factor 7 (FGF7). However, the underlying molecular mechanism influencing function of FGF7 and risk of COPD remains further study.

Methods: In this study, we replicated the genetic association of variants near the FGF7 gene in 258 Chinese Han patients with COPD and 311 healthy controls. Read More

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http://dx.doi.org/10.1186/s12881-019-0761-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380023PMC
February 2019
2.083 Impact Factor

Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis.

BMC Med Genet 2019 Feb 14;20(1):32. Epub 2019 Feb 14.

Zhejiang Hospital, Department of nutrition, Hangzhou, 310013, Zhejiang Province, China.

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in reproductive-age women. Multiple susceptible gene as well as environmental factors and their interaction each other are contributed to the PCOS risk. Several case-control studies have researched the associations of the vitamin D receptor gene (VDR) polymorphisms with PCOS susceptibility, but the jury is still out. Read More

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http://dx.doi.org/10.1186/s12881-019-0763-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376757PMC
February 2019
1 Read

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

BMC Med Genet 2019 Feb 14;20(1):31. Epub 2019 Feb 14.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.

Background: Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. To date, nearly 460 mutations have been described in the GBA1 gene. Read More

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http://dx.doi.org/10.1186/s12881-019-0759-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376752PMC
February 2019
6 Reads

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.

BMC Med Genet 2019 Feb 13;20(1):30. Epub 2019 Feb 13.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chinese family under consanguineous marriage.

Case Presentation: A 28-year-old woman suffered a bilateral profound NSHL. Read More

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http://dx.doi.org/10.1186/s12881-019-0758-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373029PMC
February 2019
1 Read

TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study.

BMC Med Genet 2019 Feb 8;20(1):29. Epub 2019 Feb 8.

College of Life Science, North China University of Science and Technology, Tangshan, 063210, China.

Background: Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer.

Methods: This case-control study included 209 small cell lung cancer patients (SCLC), 340 non- small cell lung cancer patients (NSCLC) and 460 health controls. Read More

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http://dx.doi.org/10.1186/s12881-019-0762-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368786PMC
February 2019
2 Reads

ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis.

BMC Med Genet 2019 Feb 1;20(1):28. Epub 2019 Feb 1.

School of Forensic Medicine, China Medical University, No. 77 Puhe Road, Shenbei New District, Shenyang, 110122, China.

Background: Rs189037 (G > A) is a functional single nucleotide polymorphism (SNP) in the Ataxia-telangiectasia mutated (ATM) gene that may be associated with the risk of cancer. We performed a meta-analysis to determine whether rs189037 polymorphism influences the occurrence of cancer and examined the relationship between this SNP and the etiology of cancer.

Methods: Case-control studies were retrieved from literature databases in accordance with established inclusion criteria. Read More

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http://dx.doi.org/10.1186/s12881-019-0760-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359756PMC
February 2019
3 Reads

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.

BMC Med Genet 2019 Jan 31;20(1):27. Epub 2019 Jan 31.

Department of Ophthalmology, University of Pennsylvania, Rm. 313, Stellar Chance Labs, 422 Curie Blvd, Philadelphia, PA, 19104, USA.

Background: Myopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understood. In this study, we performed genetic linkage analyses on Ashkenazi Jewish families with a strong familial history of myopia to elucidate any potential causal genes. Read More

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http://dx.doi.org/10.1186/s12881-019-0752-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357511PMC
January 2019
1 Read

Association between polymorphisms in the GRIN1 gene 5' regulatory region and schizophrenia in a northern Han Chinese population and haplotype effects on protein expression in vitro.

BMC Med Genet 2019 Jan 31;20(1):26. Epub 2019 Jan 31.

School of Forensic Medicine, China Medical University, No. 77 Puhe Road, Shenyang, 110,122, Shenbei New District, China.

Background: Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. Abnormal glutamate ionotropic N-methyl-D-aspartate receptor (NMDA) type subunit 1 (NR1) may be a potential cause of schizophrenia.

Methods: We conducted a case-control study to investigate the association between the GRIN1 gene, which encodes the NR1 subunit, and the risk of schizophrenia in a northern Chinese Han population using Sanger DNA sequencing. Read More

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http://dx.doi.org/10.1186/s12881-019-0757-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357472PMC
January 2019

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group.

BMC Med Genet 2019 Jan 29;20(1):25. Epub 2019 Jan 29.

Department of Ophthalmology, the Second Affiliated Hospital of Chongqing Medical University, NO.74, Linjiang Road, Yuzhong District, Chongqing, 400010, China.

Background: Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still unclear.

Methods: A total of 2122 Tujia volunteers were recruited and 197 of them were diagnosed with AMD (either dry or wet type). Read More

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http://dx.doi.org/10.1186/s12881-019-0756-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352349PMC
January 2019
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Association study between KIR polymorphisms and rheumatoid arthritis disease: an updated meta-analysis.

BMC Med Genet 2019 Jan 29;20(1):24. Epub 2019 Jan 29.

Rheumatology Research Center, Tehran University of Medical Sciences, PO Box: 1411713137, Tehran, Iran.

Background: Currently published studies investigating association between the killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and rheumatoid arthritis (RA) reported inconsistent and contradictory results. Hence, we aim to carry out this comprehensive meta-analysis of all eligible studies meeting the inclusion criteria to achieve precise and comprehensive relationships between genetic variations in KIR gene cluster and risk of RA.

Methods: Databases of Medline/PubMed and Scopus were searched to investigate case-control studies prior to May 2018. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0754-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352331PMC
January 2019
5 Reads
2.083 Impact Factor

Glutathione S-transferase pi 1 variant and squamous cell carcinoma susceptibility: a meta-analysis of 52 case-control studies.

BMC Med Genet 2019 Jan 21;20(1):22. Epub 2019 Jan 21.

Department of Urology Surgery, Tianjin First Center Hospital, Tianjin, 300192, China.

Background: There are several meta-analyses on the genetic relationship between the rs1695 polymorphism within the GSTP1 (glutathione S-transferase pi 1) gene and the risk of different SCC (squamous cell carcinoma) diseases, such as ESCC (oesophageal SCC), HNSCC (head and neck SCC), LSCC (lung SCC), and SSCC (skin SCC). Nevertheless, no unified conclusions have been drawn.

Methods: Herein, an updated meta-analysis was performed to evaluate the probable impact of GSTP1 rs1695 on the susceptibility to different SCC diseases under six genetic models (allele, carrier, homozygote, heterozygote, dominant, and recessive). Read More

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http://dx.doi.org/10.1186/s12881-019-0750-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340173PMC
January 2019

A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.

BMC Med Genet 2019 Jan 21;20(1):23. Epub 2019 Jan 21.

Department of Clinical Therapeutics, Alexandra General Hospital, National and Kapodistrian University of Athens, School of Medicine, 80 Vas Sofias Avenue, 11528, Athens, Greece.

Background: Hereditary amyloidosis refers to a wide spectrum of rare diseases with different causative mutations in the genes of various proteins including transthyretin, apolipoprotein AI and AII, gelsolin, lysozyme, cystatin C, fibrinogen Aα-chain, β2-microglobulin, apolipoprotein CII and CIII.

Case Presentation: Among hereditary amyloidosis subtypes, we describe here a specific case of Apolipoprotein AI amyloidosis (AApoAI), where the diagnosis began from an almost asymptomatic hepatomegaly followed by the development of primary hypogonadism. Baseline laboratory tests showed increased liver enzymes, while imaging tests revealed a suspected infiltrative liver disease. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0755-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341640PMC
January 2019
8 Reads

Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa.

BMC Med Genet 2019 Jan 19;20(1):21. Epub 2019 Jan 19.

Myles H. Thaler Center for AIDS and Human Retrovirus Research, Department of Microbiology, Immunology and Cancer Biology, University of Virginia, Charlottesville, VA, USA.

Background: The apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3 (APOBEC3) genes A3D, A3F, A3G and A3H have all been implicated in the restriction of human immunodeficiency virus type 1 (HIV-1) replication. Polymorphisms in these genes are likely to impact viral replication and fitness, contributing to viral diversity. Currently, only a few studies indicate that polymorphisms in the A3 genes may be correlated with infection risk and disease progression. Read More

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http://dx.doi.org/10.1186/s12881-018-0740-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339282PMC
January 2019
4 Reads

Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease.

BMC Med Genet 2019 Jan 18;20(1):18. Epub 2019 Jan 18.

Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, 200062, China.

Background: Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in last decades.

Case Presentation: Here, we report a Chinese young child diagnosed as PFIC with variants in tight junction protein 2 (TJP2). Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0753-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339326PMC
January 2019
12 Reads

The role of MMP-12 gene polymorphism - 82 A-to-G (rs2276109) in immunopathology of COPD in polish patients: a case control study.

BMC Med Genet 2019 Jan 18;20(1):19. Epub 2019 Jan 18.

Second Department of Internal Medicine of Collegium Medicum, Jagiellonian University in Cracow, Skawińska street 8, 31-066, Kraków, Poland.

Background: Major symptoms of chronic obstructive pulmonary disease (COPD) are chronic bronchitis and emphysema leading from lung tissue destruction, that is an effect of an imbalance between metalloproteinases (MMPs) and their tissue inhibitors activity. As potential factor involved in this COPD pathogenesis, MMP-12 is considered. We investigated the role of genetic polymorphism and protein level of MMP-12 in the COPD development among Poles. Read More

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http://dx.doi.org/10.1186/s12881-019-0751-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339316PMC
January 2019
17 Reads

Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population.

BMC Med Genet 2019 Jan 18;20(1):20. Epub 2019 Jan 18.

Second Department of Orthopaedic, Central Hospital of Cangzhou City, Cangzhou, 061001, Hebei, China.

Background: Interleukin-17 (IL-17), a pleiotropic cytokine, plays a significant role in the inflammatory diseases. By a pilot study with small population, IL-17 polymorphisms (IL-17A rs2275913 and IL-17F rs763780) showed a more potential risk factor in knee osteoarthritis (OA) in our recruited subjects. In the current study, the association between IL-17A rs2275913 and IL-17F rs763780and the risk of OA in a Chinese population is studied. Read More

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http://dx.doi.org/10.1186/s12881-018-0736-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339292PMC
January 2019
3 Reads

Association between the insulin-like growth factor 1 gene rs2195239 and rs2162679 polymorphisms and cancer risk: a meta-analysis.

BMC Med Genet 2019 Jan 17;20(1):17. Epub 2019 Jan 17.

Department of Laboratory Medicine, the Second Affiliated Hospital of Chongqing Medical University, No.74 Linjiang Road, Chonqing, 400010, Yuzhong District, China.

Background: Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to determine potential associations between IGF1 rs2195239 and rs2162679 polymorphisms and cancer risk. Read More

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http://dx.doi.org/10.1186/s12881-019-0749-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337782PMC
January 2019
2 Reads

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

BMC Med Genet 2019 Jan 14;20(1):14. Epub 2019 Jan 14.

Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.

Background: Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations. Read More

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http://dx.doi.org/10.1186/s12881-018-0725-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332535PMC
January 2019
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A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

BMC Med Genet 2019 Jan 14;20(1):13. Epub 2019 Jan 14.

Persian BayanGene Research and Training Center, Dr. Faghihi's Medical Genetic Center, Shiraz, Iran.

Background: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. Read More

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http://dx.doi.org/10.1186/s12881-018-0743-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332642PMC
January 2019
3 Reads

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

BMC Med Genet 2019 Jan 14;20(1):15. Epub 2019 Jan 14.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

Background: Autosomal recessive nail dysplasia is characterized by thick and hard nails with a very slow growth on the hands and feet. Mutations in FZD6 gene were found to be associated with autosomal recessive nail dysplasia in 2011. Presently, only seven mutations have been reported in FZD6 gene; five mutations are clustered in the C-terminus, one is at the seventh transmembrane domain, and another is at the very beginning of third extracellular loop. Read More

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http://dx.doi.org/10.1186/s12881-019-0746-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332616PMC
January 2019
3 Reads

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

BMC Med Genet 2019 Jan 14;20(1):16. Epub 2019 Jan 14.

Department of Biomedical Science, University of Sassari, Sassari, Italy.

Background: KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported.

Case Presentation: Here, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
Publisher Site
http://dx.doi.org/10.1186/s12881-019-0745-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332862PMC
January 2019
14 Reads