3,451,548 results match your criteria Genetics in Medicine [Journal]


A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa.

Ultraschall Med 2018 Dec 14;39(6):600-601. Epub 2018 Dec 14.

Ultraschallpraxis Freie Strasse, Basel, Switzerland.

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December 2018

CRISPR-C: circularization of genes and chromosome by CRISPR in human cells.

Nucleic Acids Res 2018 Dec;46(22):e131

Department of Biomedicine, Aarhus University, Denmark.

Extrachromosomal circular DNA (eccDNA) and ring chromosomes are genetic alterations found in humans with genetic disorders. However, there is a lack of genetic engineering tools to recapitulate and study the biogenesis of eccDNAs. Here, we created a dual-fluorescence biosensor cassette, which upon the delivery of pairs of CRISPR/Cas9 guide RNAs, CRISPR-C, allows us to study the biogenesis of a specific fluorophore expressing eccDNA in human cells. Read More

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December 2018

Elagolix for endometriosis: all that glitters is not gold.

Hum Reprod 2018 Dec 14. Epub 2018 Dec 14.

Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Via Commenda, 12, 20122 Milan, Italy.

Elagolix, an orally active non-peptidic GnRH antagonist, has been approved by the Food and Drug Administration for the management of moderate to severe pain associated with endometriosis. As the degree of ovarian suppression obtained with elagolix is dose-dependent, pain relief may be achieved by modulating the level of hypo-oestrogenism while limiting side effects. Elagolix may thus be considered a novelty in terms of its endocrine and pharmacological properties but not for its impact on the pathogenic mechanisms of endometriosis, as the target of this new drug is, yet again, alteration of the hormonal milieu. Read More

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December 2018

MiR-23a-3p acts as an oncogene and potential prognostic biomarker by targeting PNRC2 in RCC.

Biomed Pharmacother 2018 Dec 11;110:656-666. Epub 2018 Dec 11.

Department of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, P.R. China; Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, P.R. China. Electronic address:

Background: Renal cell carcinoma (RCC) is a most common kidney malignancy, with atypical symptoms in the early stage and poor outcome in the late stage. Recently, emerging evidence revealed that some miRNAs play an essential role in the tumorigenesis and progression of RCC. Therefore, the aim of this study is that understand the detailed molecular mechanism of miR-23a-3p in RCC and identify its potential clinical value. Read More

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December 2018

Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers.

Eur J Cancer 2018 Dec 11;107:68-78. Epub 2018 Dec 11.

Department of Genetics, Cell Biology and Anatomy, College of Medicine, USA; Cancer Centre and Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Taipa, Macau, SAR, China. Electronic address:

Purpose: The presence of pathogenic germline mutation in BRCA1 gene is considered as the most penetrant genetic predisposition for breast cancer. However, a portion of BRCA1 mutation carriers never develops breast cancer throughout their lifetime. This phenomenon is called incomplete penetrance. Read More

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December 2018

Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.

Authors:
Barry Wolf

Mult Scler Relat Disord 2018 Nov 28;28:26-30. Epub 2018 Nov 28.

Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago and Northwestern Feinberg School of Medicine Chicago, IL 60611, USA. Electronic address:

Background: Multiple sclerosis is a disorder of the central and peripheral nervous system of young and old adults that is characterized by muscle, coordination and vision abnormalities. Multiple sclerosis is likely due to numerous causes.

Methods: Recently, adolescents and adults with ophthalmological and or neurological findings have been diagnosed with biotinidase deficiency. Read More

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November 2018
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Ostrich egg yolk improves post thaw quality and in vivo fertility of Nili Ravi buffalo (Bubalus bubalis) bull spermatozoa.

Theriogenology 2018 Dec 6;126:140-144. Epub 2018 Dec 6.

Semen Production Unit Qadirabad, Sahiwal, Pakistan. Electronic address:

Egg yolk containing higher ratio of phospholipids and cholesterol may have better cryoprotective effect to buffalo spermatozoa during cryopreservation. Our objectives were to ascertain the comparison of Ostrich and chicken egg yolk in semen extender on post thaw quality, motion dynamics and in vivo fertility of Nili Ravi buffalo (Bubalus bubalis) bull spermatozoa. Semen samples (n = 45) from five bulls were collected once a week for a period of nine weeks and diluted in Triladyl extender having different concentrations of Ostrich egg yolk (10%, 15%, 20%) and 20% chicken egg yolk as control at 37 °C. Read More

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December 2018

Comparison and implementation of different control strategies for improving production of rHSA using Pichia pastoris.

J Biotechnol 2018 Dec 11. Epub 2018 Dec 11.

Department of Chemical Engineering, Indian Institute of Technology, Hauz Khas, New Delhi, India. Electronic address:

Recombinant protein production by various host organisms is strictly regulated, which is determined mainly by host cell genetics and maintenance of process variables within desirable limits in a reactor. Since the process dynamics typically exhibit nonlinear interactions amongst the critical process variables, the commonly employed controllers are suboptimal for control of most bioprocesses. In this article, we present the implementation of an augmented controller for improving the production of recombinant human serum albumin using Pichia pastoris. Read More

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December 2018

Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients.

Clin Chim Acta 2018 Dec 11. Epub 2018 Dec 11.

Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, Milan 20132, Italy; Laboratory of Clinical Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milano, Italy.

A major effort has been focused on the detection of oncogenes' mutations in diverse types of clinical specimens including formalin-fixed and paraffin embedded tissues, presently the gold-standard samples, up to plasma, that constitute a noninvasive alternative source of tumor DNA. The reliable detection of mutations in circulating tumor DNA requires a high analytical sensitivity. Here, we applied three different highly sensitive methodologies (COLD-PCR, a microarray-based approach and the droplet digital PCR, ddPCR) to identify mutations in the plasma of 30 metastatic colorectal cancer patients previously genotyped on tissue biopsy. Read More

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December 2018

Stromal PTEN Regulates Extracellular Matrix Organization in the Mammary Gland.

Neoplasia 2018 Dec 11;21(1):132-145. Epub 2018 Dec 11.

Department of Biomedical Engineering, College of Engineering, The Ohio State University, Columbus, OH 43210; The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210. Electronic address:

The organization of the extracellular matrix has a profound impact on cancer development and progression. The matrix becomes aligned throughout tumor progression, providing "highways" for tumor cell invasion. Aligned matrix is associated with breast density and is a negative prognostic factor in several cancers; however, the underlying mechanisms regulating this reorganization remain poorly understood. Read More

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December 2018

COPI localizes to the early Golgi in Aspergillus nidulans.

Fungal Genet Biol 2018 Dec 11. Epub 2018 Dec 11.

Department of Cellular and Molecular Biology, Centro de Investigaciones Biológicas CSIC, Ramiro de Maeztu 9, Madrid 28040, Spain. Electronic address:

Coatomer-I (COPI) is a heteromeric protein coat that facilitates the budding of membranous carriers mediating Golgi-to-ER and intra-Golgi transport. While the structural features of COPI have been thoroughly investigated, its physiological role is insufficiently understood. Here we exploit the amenability of A. Read More

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December 2018

Iron-associated protein interaction networks reveal the key functional modules related to survival and virulence of Pasteurella multocida.

Microb Pathog 2018 Dec 11. Epub 2018 Dec 11.

Department of Zoology, Faculty of Science, Kasetsart University, Bangkok, 10900, Thailand; Omics Center for Agriculture, Bioresources, Food, and Health, Faculty of Science, Kasetsart University (OmiKU), Bangkok, 10900, Thailand. Electronic address:

Pasteurella multocida causes respiratory infectious diseases in a multitude of birds and mammals. A number of virulence-associated genes were reported across different strains of P. multocida, including those involved in the iron transport and metabolism. Read More

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December 2018

Black and Minority Ethnic women's decision-making for risk reduction strategies after BRCA testing: Use of context and knowledge.

Eur J Med Genet 2018 Dec 11. Epub 2018 Dec 11.

King's College London, Florence Nightingale Faculty of Nursing, Midwifery and Palliative Care, London, United Kingdom; Faculty of Health and Wellbeing, Sheffield Hallam University, Sheffield, United Kingdom.

Within the field of breast cancer care, women concerned about their family history are offered genetic testing and subsequent treatment options based on several factors which include but are not limited to personal and family cancer disease histories and clinical guidelines. Discussions around decision-making in genetics in Black and Minority Ethnic (BME) groups are rarely documented in literature, and information regarding interactions with genetics services is usually discussed and linked to lack of scientific knowledge. As such, counselling sessions based only on scientific and medical information miss out the many reasons participants consider in making health decisions, information which can be used to encourage BME women to engage in cancer genetics services. Read More

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December 2018

Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis.

Cell 2018 Dec;175(7):1931-1945.e18

Department of Cellular and Molecular Pharmacology, University of California San Francisco, San Francisco, CA, USA; Quantitative Biosciences Institute (QBI), University of California San Francisco, San Francisco, CA, USA; The J. David Gladstone Institutes, San Francisco, CA, USA. Electronic address:

Mosquito-borne flaviviruses, including dengue virus (DENV) and Zika virus (ZIKV), are a growing public health concern. Systems-level analysis of how flaviviruses hijack cellular processes through virus-host protein-protein interactions (PPIs) provides information about their replication and pathogenic mechanisms. We used affinity purification-mass spectrometry (AP-MS) to compare flavivirus-host interactions for two viruses (DENV and ZIKV) in two hosts (human and mosquito). Read More

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December 2018

CARM1 and Paraspeckles Regulate Pre-implantation Mouse Embryo Development.

Cell 2018 Dec;175(7):1902-1916.e13

Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3EG, UK. Electronic address:

Nuclear architecture has never been carefully examined during early mammalian development at the stages leading to establishment of the embryonic and extra-embryonic lineages. Heterogeneous activity of the methyltransferase CARM1 during these stages results in differential methylation of histone H3R26 to modulate establishment of these two lineages. Here we show that CARM1 accumulates in nuclear granules at the 2- to 4-cell stage transition in the mouse embryo, with the majority corresponding to paraspeckles. Read More

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December 2018

Assessment of GFP Tag Position on Protein Localization and Growth Fitness in Yeast.

J Mol Biol 2018 Dec 12. Epub 2018 Dec 12.

Department of Plant and Environmental Sciences, Weizmann Institute of Science, Rehovot 7610001, Israel. Electronic address:

While protein tags are ubiquitously utilized in molecular biology, they harbor the potential to interfere with functional traits of their fusion counterparts. Systematic evaluation of the effect of protein tags on function would promote accurate use of tags in experimental setups. Here we examine the effect of Green Fluorescent Protein (GFP) tagging at either the N or C terminus of budding yeast proteins on subcellular localization and functionality. Read More

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December 2018

Roles for HB-EGF in Mesenchymal Stromal Cell Proliferation and Differentiation During Skeletal Growth.

J Bone Miner Res 2018 Dec 14. Epub 2018 Dec 14.

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.

HB-EGF, a member of the EGF superfamily, plays important roles in development and tissue regeneration. However, its functions in skeletal stem cells and skeleton development and growth remain poorly understood. Here, we used the Cre/LoxP system to ablate or express HB-EGF in Dermo1+ mesenchymal stromal cells and their progenies, including chondrocytes and osteoblast lineage cells, and bone marrow stromal cells (BMSCs). Read More

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December 2018

Type VI collagen promotes lung epithelial cell spreading and wound-closure.

PLoS One 2018 14;13(12):e0209095. Epub 2018 Dec 14.

Division of Neonatology and Pediatric Molecular and Personalized Medicine Program, Department of Pediatrics, University of Rochester, Rochester, New York, United States of America.

Basement membrane (BM) is an essential part of the extracellular matrix (ECM) that plays a crucial role in mechanical support and signaling to epithelial cells during lung development, homeostasis and repair. Abnormal composition and remodeling of the lung ECM have been associated with developmental abnormalities observed in multiple pediatric and adult respiratory diseases. Collagen VI (COL6) is a well-studied muscle BM component, but its role in the lung and its effect on pulmonary epithelium is largely undetermined. Read More

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December 2018
3.234 Impact Factor

Genome survey sequencing for the characterization of genetic background of Dracaena cambodiana and its defense response during dragon's blood formation.

PLoS One 2018 14;13(12):e0209258. Epub 2018 Dec 14.

Key Laboratory of Biology and Genetic Resources of Tropical Crops of Ministry of Agriculture and Rural Affairs, Institute of Tropical Bioscience and Biotechnology, Chinese Academy of Tropical Agricultural Sciences, Haikou, Hainan, People's Republic of China.

Dragon's blood collected from the genus Dracaena is used as a renowned traditional medicine in various cultures worldwide. However, the genetics of the genus Dracaena and the formation mechanism of dragon's blood remain poorly understood. Here, we generate the first draft genome reference assembly of an elite Chinese Dracaena species, Dracaena cambodiana, from next-generation sequencing data with 89. Read More

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December 2018

Determining diet from faeces: Selection of metabarcoding primers for the insectivore Pyrenean desman (Galemys pyrenaicus).

PLoS One 2018 14;13(12):e0208986. Epub 2018 Dec 14.

Department of Zoology and Animal Cell Biology, University of the Basque Country UPV/EHU, Leioa, Basque Country, Spain.

Molecular techniques allow non-invasive dietary studies from faeces, providing an invaluable tool to unveil ecological requirements of endangered or elusive species. They contribute to progress on important issues such as genomics, population genetics, dietary studies or reproductive analyses, essential knowledge for conservation biology. Nevertheless, these techniques require general methods to be tailored to the specific research objectives, as well as to substrate- and species-specific constraints. Read More

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December 2018

Ex vivo assays to predict enhanced chemosensitization by hyperthermia in urothelial cancer of the bladder.

PLoS One 2018 14;13(12):e0209101. Epub 2018 Dec 14.

Department of Molecular Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

Introduction: Bladder cancer (urothelial carcinoma) is a common malignancy characterized by high recurrence rates and intense clinical follow-up, indicating the necessity for more effective therapies. Current treatment regimens include intra-vesical administration of mitomycin C (MMC) for non-muscle invasive disease and systemic cisplatin for muscle-invasive or metastatic disease. Hyperthermia, heating a tumor to 40-44°C, enhances the efficacy of these chemotherapeutics by various modes of action, one of which is inhibition of DNA repair via homologous recombination. Read More

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December 2018

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

PLoS One 2018 14;13(12):e0208383. Epub 2018 Dec 14.

Karolinska Institutet, Dept NVS, Division for Neurogeriatrics, Bioclinicum, Akademiska stråket, Solna, Sweden.

Background: The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the frequency of C9orf72 repeat expansions in a Bulgarian dementia cohort and to delineate the associated clinical features.

Methods And Findings: PCR-based assessments of the C9orf72 hexanucleotide repeat expansion in all study samples (including 82 FTD, 37 Alzheimer's disease (AD), and 16 other neurodegenerative/dementia disorder cases) were performed. Read More

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December 2018

High-grade Endometrial Carcinomas: Morphologic and Immunohistochemical Features, Diagnostic Challenges and Recommendations.

Int J Gynecol Pathol 2019 Jan;38 Suppl 1:S40-S63

Department of Pathology, Memorial Sloan Kettering Cancer Center (R.M., R.A.S.) New York University Medical Center and School of Medicine, Tisch Hospital (K.M.), New York Department of Pathology, University Hospital, Stony Brook School of Medicine, Stony Brook (C.T.), New York Department of Pathology, Oslo University Hospital, Norwegian Radium Hospital; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway (B.D.) Department of Pathology, University of California San Diego, San Diego (O.F.) Department of Pathology, Cedars-Sinai Medical Center, Los Angeles (J.K.L.R.), California Department of Pathology, Karolinska Institutet, Stockholm, Sweden (J.A.C.) Department of Pathology, Brigham and Women's Hospital, Harvard Medical School (C.P.C.) Department of Pathology, Massachussetts General Hospital, Harvard Medical School (E.O.), Boston, Massachussetts Department of Pathology, University of British Columbia, Vancouver (C.B.G., J.A.I.) Department of Laboratory Medicine, Pathology and Medical Genetics, Royal Jubilee Hospital, Victoria (J.A.I.), BC, Canada Department of Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, Texas (A.M.) Department of Pathology, Hospital University Arnau de Vilanova; and Department of Pathology, Hospital University de Bellvitge, IRBLLEIDA, IDIBELL, University of Lleida, CIBERONC, Barcelona, Spain (X.M.-G.) Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK (W.G.M.) Department of Pathology and Obstetrics and Gynecology, Yale School of Medicine and Yale School of Publich Health, New Haven, Connecticut (V.P.) Department of Pathology, University of Maryland School of Medicine, Baltimore, Maryland (P.N.S.) Department of Pathology, KEMH and School for Women's and Infants' Health, University of Western Australia, Perth, WA, Australia (C.J.R.S.).

This review of challenging diagnostic issues concerning high-grade endometrial carcinomas is derived from the authors' review of the literature followed by discussions at the Endometrial Cancer Workshop sponsored by the International Society of Gynecological Pathologists in 2016. Recommendations presented are evidence-based, insofar as this is possible, given that the levels of evidence are weak or moderate due to small sample sizes and nonuniform diagnostic criteria used in many studies. High-grade endometrioid carcinomas include FIGO grade 3 endometrioid carcinomas, serous carcinomas, clear cell carcinomas, undifferentiated carcinomas, and carcinosarcomas. Read More

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January 2019
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Lipoprotein metabolism in liver diseases.

Curr Opin Lipidol 2018 Dec 12. Epub 2018 Dec 12.

Division of Gastroenterology and Hepatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.

Purpose Of Review: The liver is the central hub of lipoprotein metabolism. A complex relationship exists between dyslipidemia and chronic liver diseases (CLDs). Recent advances in the genetics of nonalcoholic fatty liver disease (NAFLD) and alcoholic liver disease (ALD) exemplify the pivotal role of lipoprotein metabolism in the pathogenesis of CLD. Read More

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December 2018

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.

Endocr Connect 2018 Dec;7(12):1432-1441

IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy.

Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. Read More

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December 2018

What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics.

J Clin Psychiatry 2018 Nov 27;80(1). Epub 2018 Nov 27.

Centre for Addiction and Mental Health and University of Toronto, Toronto, Ontario, Canada.

The International Society of Psychiatric Genetics (ISPG) created a Residency Education Committee with the purpose of identifying key genetic knowledge that should be taught in psychiatric training programs. Thirteen committee members were appointed by the ISPG Board of Directors, based on varied training, expertise, gender, and national origin. The Committee has met quarterly for the past 2 years, with periodic reports to the Board and to the members of the Society. Read More

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November 2018

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Department of Neurology, Mayo Clinic, Mayo Clinic, Scottsdale, Arizona.

Exome sequencing is being used increasingly to evaluate patients with intellectual disability. YY1 is a ubiquitously distributed transcription factor belonging to the GLIKruppel class of zinc finger proteins recently recognized as the causative gene in 23 patients for the Gabriele-de Vries syndrome. We report a new case with similar features and a novel variant in YY1, in a region of the gene, which has not previously been reported. Read More

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December 2018

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p. Read More

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December 2018

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Virginia Tech Carilion Research Institute, Roanoke, Virginia.

Heterozygous loss-of-function mutations in the X-linked gene CASK are associated with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) and ophthalmological disorders including optic nerve atrophy (ONA) and optic nerve hypoplasia (ONH). Recently, we have demonstrated that CASK mice display ONH with 100% penetrance but exhibit no change in retinal lamination or structure. It is not clear if CASK loss-of-function predominantly affects retinal ganglion cells, or if other retinal cells like photoreceptors are also involved. Read More

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December 2018
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The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Read More

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December 2018

LncRNAs in Cancer: another layer of complexity.

J Gene Med 2018 Dec 14:e3065. Epub 2018 Dec 14.

Department of Genetics, Federal University of Parana, Brazil.

Aims: This article aims to review the most well characterized lncRNAs with important roles in hallmarks of cancer, additionally including lncRNAs with higher potential for clinical application.

Discussion: LncRNAs are transcripts larger than 200 nucleotides in length that do not appear to have protein-coding potential, although some of those may produce small functional peptides. These transcripts have attracted significant attention of researchers due to their role in genetic regulation including epigenetic, transcriptional, and post-transcriptional regulation, being involved in numerous biological processes as well as being associated with multifactorial diseases, including tumorigenesis. Read More

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December 2018

Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.

Head Neck 2018 Dec 14. Epub 2018 Dec 14.

Institute of Sanitary Research of Asturias, Institute of Oncology of Asturias (IUOPA), CIBERONC, Hospital Central de Asturias, Universidad de Oviedo, Oviedo, Spain.

Background: Succinate dehydrogenase subunit B (SDHB) immunohistochemistry was considered a valuable tool to identify patients with inherited paraganglioma/pheochromocytoma (PGL/PCC). However, previous studies jointly analyzed 2 related but clinically distinct entities, parasympathetic head and neck paragangliomas (HNPGLs) and sympathetic PCCs/PGLs. Additionally, a role for hypoxia inducible factor-1α (HIF-1α) as a biomarker for succinate dehydrogenase (SDHx)-mutated tumors has not been studied. Read More

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December 2018

Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.

Ann Neurol 2018 Dec 14. Epub 2018 Dec 14.

Ataxia Telangiectasia Service, Respiratory Support and Sleep Centre, Papworth Hospital. Papworth Everard, Cambridge, CB23 3RE, UK.

Objective: Variant Ataxia-Telangiectasia is caused by mutations that allow some retained ATM kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant Ataxia-Telangiectasia and explore genotype-phenotype correlations.

Methods: Cross-sectional data were collected retrospectively. Read More

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December 2018
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Neuronal cell adhesion molecule regulating neural systems underlying addiction.

Neuropsychopharmacol Rep 2018 Dec 13. Epub 2018 Dec 13.

Department of Biology, William Paterson University, Wayne, New Jersey.

Aims: The human NRCAM gene is associated with polysubstance use. Nrcam knockout mice do not acquire a preference for addictive substances. We aimed to elucidate the role of Nrcam in specific neural circuits underlying congenital preference for substances and the acquisition of addiction. Read More

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December 2018

xCas9 expands the scope of genome editing with reduced efficiency in rice.

Plant Biotechnol J 2018 Dec 13. Epub 2018 Dec 13.

State Key Laboratory of Plant Genomics and National Center for Plant Gene Research (Beijing), Institute of Genetics and Developmental Biology, The Innovative Academy of Seed Design, Chinese Academy of Sciences, Beijing, 100101, China.

CRISPR-Cas9 systems have been widely used in animals and plants for genome editing, epigenetic modification, etc. (Cong et al., 2013, Hilton et al. Read More

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December 2018

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.

J Cell Mol Med 2018 Dec 13. Epub 2018 Dec 13.

Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.

CCM3, originally described as PDCD10, regulates blood-brain barrier integrity and vascular maturation in vivo. CCM3 loss-of-function variants predispose to cerebral cavernous malformations (CCM). Using CRISPR/Cas9 genome editing, we here present a model which mimics complete CCM3 inactivation in cavernous endothelial cells (ECs) of heterozygous mutation carriers. Read More

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December 2018

Dermapen in the treatment of wrinkles in cigarette smokers and skin aging effectively.

J Cosmet Dermatol 2018 Dec;17(6):1200-1204

Department of Dermatology & Venereology, Medical School, Zagazig University, Cairo, Egypt.

Skin aging is a complex biological process that arises from two basic processes: intrinsic aging (influenced by genetics factors, cellular metabolism, hormone, and metabolic processes) and extrinsic aging caused by chronic light exposure, pollution, ionizing radiation, chemicals, toxins (Expert Opin Biol Ther. 2008;8:393). Intrinsic aging called also chronological aging is observed in sun-protected skin of elderly persons. Read More

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December 2018
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An antibiofilm coating of 5-aryl-2-aminoimidazole covalently attached to a titanium surface.

J Biomed Mater Res B Appl Biomater 2018 Dec 13. Epub 2018 Dec 13.

Department of Microbial and Molecular Systems, Centre of Microbial and Plant Genetics (CMPG), KU Leuven, Kasteelpark Arenberg 20 Box 2460, 3001 Leuven, Belgium.

Biofilms, especially those formed by Staphylococcus aureus, play a key role in the development of orthopedic implant infections. Eradication of these infections is challenging due to the elevated tolerance of biofilm cells against antimicrobial agents. In this study, we developed an antibiofilm coating consisting of 5-(4-bromophenyl)-N-cyclopentyl-1-octyl-1H-imidazol-2-amine, designated as LC0024, covalently bound to a titanium implant surface (LC0024-Ti). Read More

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December 2018
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Understanding others: emotion recognition abilities in humans and other animals.

Genes Brain Behav 2018 Dec 13:e12544. Epub 2018 Dec 13.

Genetics of Cognition laboratory, Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova, Italy.

Emotion recognition represents the ability to encode an ensemble of sensory stimuli providing information about the emotional state of another individual. This ability is not unique to humans. An increasing number of studies suggests that many aspects of higher order social functions, including emotion recognition, might be present in species ranging from primates to rodents, indicating a conserved role of these abilities in social animals. Read More

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December 2018

Integrating a genome-wide association study with a large-scale transcriptome analysis to predict genetic regions influencing the glycaemic index and texture in rice.

Plant Biotechnol J 2018 Dec 13. Epub 2018 Dec 13.

International Rice Research Institute, Los Baños, Laguna, 4030, Philippines.

Reliably generating rice varieties with low glycaemic index (GI) is an important nutritional intervention given the high rates of Type II diabetes incidences in Asia where rice is staple diet. We integrated a genome-wide association study (GWAS) with a transcriptome-wide association study (TWAS) to determine the genetic basis of the GI in rice. GWAS utilized 305 re-sequenced diverse indica panel comprising ~2. Read More

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December 2018

RanGAP-mediated nucleocytoplasmic transport of Prospero regulates neural stem cell lifespan in Drosophila larval central brain.

Aging Cell 2018 Dec 13:e12854. Epub 2018 Dec 13.

Division of Human Reproduction and Developmental Genetics, The Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

By the end of neurogenesis in Drosophila pupal brain neuroblasts (NBs), nuclear Prospero (Pros) triggers cell cycle exit and terminates NB lifespan. Here, we reveal that in larval brain NBs, an intrinsic mechanism facilitates import and export of Pros across the nuclear envelope via a Ran-mediated nucleocytoplasmic transport system. In rangap mutants, the export of Pros from the nucleus to cytoplasm is impaired and the nucleocytoplasmic transport of Pros becomes one-way traffic, causing an early accumulation of Pros in the nuclei of the larval central brain NBs. Read More

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December 2018
6.340 Impact Factor

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.

J Obstet Gynaecol Res 2018 Dec 13. Epub 2018 Dec 13.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Circulating cell-free DNA, having no procedural risk of miscarriage, is the most suitable sample for a noninvasive prenatal testing (NIPT). Here we report on a boy, who came to our attention for hypotonia and psychomotor delay when he was 16 months old. During the pregnancy his mother performed a NIPT that resulted compatible with the presence of trisomy 18. Read More

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December 2018

Geographical adaptation prevails over species-specific determinism in trees' vulnerability to climate change at Mediterranean rear-edge forests.

Glob Chang Biol 2018 Dec 13. Epub 2018 Dec 13.

Ecoclimatology, Department of Ecology and Ecosystem Management, Technische Universität München, Freising, Germany.

Climate change may reduce forest growth and increase forest mortality, which is connected to high carbon costs through reductions in gross primary production and net ecosystem exchange. Yet the spatiotemporal patterns of vulnerability to both short-term extreme events as well as gradual environmental changes are quite uncertain across the species' limits of tolerance to dryness. Such information is fundamental for defining ecologically relevant upper limits of species tolerance to drought and hence, to predict the risk of increased forest mortality and shifts in species composition. Read More

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December 2018

Ecological differentiation facilitates fine-scale coexistence of sexual and asexual Boechera.

Am J Bot 2018 Dec 13. Epub 2018 Dec 13.

Department of Biology, Duke University, Box 90338, Durham, North Carolina, 27708, USA.

Premise Of The Study: Ecological differentiation (ED) between sexual and asexual organisms may permit the maintenance of reproductive polymorphism. Several studies of sexual/asexual ED in plants have shown that the geographic ranges of asexuals extend beyond those of sexuals, often in areas of higher latitude or elevation. But very little is known about ED at fine scales, wherein coexistence of sexuals and asexuals may be permitted by differential niche occupation. Read More

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December 2018

TBX21-1993T/C polymorphism association with Th1 and Th17 response at periapex and with periapical lesions development risk.

J Leukoc Biol 2018 Dec 13. Epub 2018 Dec 13.

Department of Biological Sciences, School of Dentistry of Bauru, University of Sao Paulo, Bauru, Brazil.

TBX21-1993T/C (rs4794067) polymorphism increases the transcriptional activity of the Tbx21, essential for interferon gamma (IFNg) transcription, but its functional impact on development Th1- response in vivo remains unclear, as well its potential influence over inflammatory osteolytic conditions, such as periapical lesions. Therefore, this study comprises a case-control and functional investigation of Tbx21 genetic variations impact on Th1 response in vivo and in vitro, and its impact on periapical lesions risk and outcome, performed with a population of healthy controls (H; N = 283) and patients presenting periapical lesions (L; N = 188) or deep caries (DC; N = 152). TBX21-1993T/C genotyping demonstrated that the polymorphic allele C, as well TC/TC+CC genotypes, was significantly less frequent in the L patients compared to H and DC groups. Read More

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December 2018

MiR-16-5p is frequently down-regulated in astrocytic gliomas and modulates glioma cell proliferation, apoptosis, and response to cytotoxic therapy.

Neuropathol Appl Neurobiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Neuropathology, Heinrich Heine University, Düsseldorf, Germany.

Aims: Aberrant expression of microRNAs (miRNAs) is frequent in various cancers including gliomas. We aimed to characterize the role of miR-16-5p as a candidate tumour suppressor miRNA in gliomas.

Methods: Real-time PCR-based approaches were used for miRNA and mRNA expression profiling of glioma and non-neoplastic brain tissues as well as glioma cell lines. Read More

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December 2018

Isolation and culture of human primary keratinocytes - a methods review.

Exp Dermatol 2018 Dec 13. Epub 2018 Dec 13.

Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland.

Keratinocyte culture is a necessary and widely used tool in a variety of experimental dermatological and biomedical studies. Literature search has revealed a variety of different protocols of human primary keratinocyte isolation and culture. Therefore, the aim of this paper was to review and summarize current trends in human primary keratinocyte culture techniques. Read More

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December 2018

Proteomic Evidence of Biological Ageing in a Child with a Compound Heterozygous ZMPSTE24 Mutation.

Proteomics Clin Appl 2018 Dec 13:e1800135. Epub 2018 Dec 13.

A. K. Lucas-Herald, B. Mansoorian, W. Mullen, C. Delles, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, G12 8TA, UK.

Background: Progeria-like syndromes offer a unique insight into ageing. Here we present the case of a boy affected with mandibuloacral dysplasia and compound heterozygous mutations in ZMPSTE24.

Methods: Capillary electrophoresis-mass spectroscopy was used for proteome analysis to analyse peptides previously found to be differentially regulated in chronic kidney disease (273 peptides defining the CKD273 classifier), coronary artery disease (238 peptides defining the CAD238 classifier) and ageing (116 peptides defining the AGE116 classifier). Read More

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December 2018

Masticatory Apparatus Performance and Functional Morphology in the Extremely Large Mice from Gough Island.

Anat Rec (Hoboken) 2018 Dec 13. Epub 2018 Dec 13.

Department of Anatomy and Neurobiology, Northeast Ohio Medical University, Rootstown, OH, 44272, USA.

Since their arrival approximately 200 years ago, the house mice (Mus musculus) on Gough Island (GI) rapidly increased in size to become the largest wild house mice on record. Along with this extreme increase in body size, GI mice adopted a predatory diet, consuming significant quantities of seabird chicks and eggs. We studied this natural experiment to determine how evolution of extreme size and a novel diet impacted masticatory apparatus performance and functional morphology in these mice. Read More

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December 2018

Cellular organization and boundary formation in craniofacial development.

Genesis 2018 Dec 13:e23271. Epub 2018 Dec 13.

Department of Cell and Tissue Biology, Program in Craniofacial Biology, and Institute of Human Genetics, University of California at San Francisco, San Francisco, CA, USA.

Craniofacial morphogenesis is a highly dynamic process that requires changes in the behaviors and physical properties of cells in order to achieve the proper organization of different craniofacial structures. Boundary formation is a critical process in cellular organization, patterning, and ultimately tissue separation. There are several recurring cellular mechanisms through which boundary formation and cellular organization occur including, transcriptional patterning, cell segregation, cell adhesion and migratory guidance. Read More

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December 2018
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