16,613 results match your criteria deletion long


Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.

BMC Med Genomics 2021 Oct 13;14(1):247. Epub 2021 Oct 13.

Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China.

Background: Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese family with MCD. Read More

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October 2021

Growth Hormone and Insulin-Like Growth Factor Dysregulation in Pediatric Chronic Kidney Disease.

Authors:
Saul Malozowski

Horm Res Paediatr 2021 Oct 13. Epub 2021 Oct 13.

The benefit/risk ratio of GH use presented by Brown and Bauer (1) in their review encompass more than three decades. The information for GH us is solid but there is no data for recommending IGF-I use in CKD. Its main reference (2) is from the founder and chief technical officer the company that commercialized IGF-I, lacking any human data to support the use of IGF-I in this population questioning the validity of this endorsement. Read More

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October 2021

A mouse-specific retrotransposon drives a conserved Cdk2ap1 isoform essential for development.

Cell 2021 Oct 7. Epub 2021 Oct 7.

Division of Cellular and Developmental Biology, MCB Department, University of California, Berkeley, Berkeley, CA 94720, USA. Electronic address:

Retrotransposons mediate gene regulation in important developmental and pathological processes. Here, we characterized the transient retrotransposon induction during preimplantation development of eight mammals. Induced retrotransposons exhibit similar preimplantation profiles across species, conferring gene regulatory activities, particularly through long terminal repeat (LTR) retrotransposon promoters. Read More

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October 2021

Neutrophil-Derived Proteases Contribute to the Pathogenesis of Early Diabetic Retinopathy.

Invest Ophthalmol Vis Sci 2021 Oct;62(13)

Center for Translational Vision Research, Gavin Herbert Eye Institute, University of California - Irvine, Irvine, California, United States.

Purpose: Previous studies indicate that leukocytes, notably neutrophils, play a causal role in the capillary degeneration observed in diabetic retinopathy (DR), however, the mechanism by which they cause such degeneration is unknown. Neutrophil elastase (NE) is a protease released by neutrophils which participates in a variety of inflammatory diseases. In the present work, we investigated the potential involvement of NE in the development of early DR. Read More

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October 2021

Year-long COVID-19 infection reveals within-host evolution of SARS-CoV-2 in a patient with B cell depletion.

medRxiv 2021 Oct 5. Epub 2021 Oct 5.

Background: B-cell depleting therapies may lead to protracted disease and prolonged viral shedding in individuals infected with SARS-CoV-2. Viral persistence in the setting of immunosuppression raises concern for viral evolution.

Methods: Amplification of sub-genomic transcripts for the E gene (sgE) was done on nasopharyngeal samples over the course of 355 days in a patient infected with SARS-CoV-2 who had previously undergone CAR T cell therapy and had persistently positive SARS-CoV-2 nasopharyngeal swabs. Read More

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October 2021

SIRT2-mediated deacetylation and deubiquitination of C/EBPβ prevents ethanol-induced liver injury.

Cell Discov 2021 Oct 12;7(1):93. Epub 2021 Oct 12.

Department of Pathophysiology, Key Laboratory of Cell Differentiation and Apoptosis of Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Protein acetylation has emerged to play pivotal roles in alcoholic liver disease (ALD). Sirutin 2 (SIRT2) is a nicotinamide adenine dinucleotide (NAD)-dependent deacetylase involved in the regulation of aging, metabolism, and stress. However, the role of SIRT2 in ALD remains unclear. Read More

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October 2021

GATA2 deficiency phenotype associated with tandem duplication GATA2 and over-expression of GATA2-AS1.

Blood Adv 2021 Oct 12. Epub 2021 Oct 12.

NIHR Newcastle Biomedical Research Centre, United Kingdom.

A 3-year old girl of non-consanguineous healthy parents presented with cervical and mediastinal lymphadenopathy due to Mycobacterium fortuitum infection. Routine blood analysis showed normal hemoglobin, neutrophils and platelets but profound mononuclear cell deficiency (monocytes <0.1x109/L; B cells 78/µL; NK cells 48/µL). Read More

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October 2021

The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.

Blood Adv 2021 Oct 12. Epub 2021 Oct 12.

Belgian Cancer Registry, Brussels, Belgium.

Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem-cell disorders characterized by ineffective hematopoiesis leading to peripheral cytopenias and in a substantial proportion of cases to acute myeloid leukemia. The deletion of the long arm of chromosome 11, del(11q), is a rare but recurrent clonal event in MDS. Here, we detail the largest series of 113 cases of MDS and myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) harboring a del(11q) analyzed at clinical, cytological, cytogenetic and molecular levels. Read More

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October 2021

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Mol Genet Genomic Med 2021 Oct 12:e1834. Epub 2021 Oct 12.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

Background: 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosynostosis, radioulnar synostosis, genital and vesicorenal anomalies, cardiac anomalies, caudal appendage, and umbilical hernia.

Methods: In the present study, whole-exome sequencing was performed in order to identify disease causing variant in an Iranian 7-year-old affected girl with craniosynostosis, dolichocephaly, blepharoptosis, clinodactyly of the 5th finger, high myopia, long face, micrognathia, patent ductus arteriosus, downslanted palpebral fissures, telecanthus, and epicanthus inversus. Read More

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October 2021

Reduced cue-induced reinstatement of cocaine-seeking behavior in Plcb1 +/- mice.

Transl Psychiatry 2021 Oct 11;11(1):521. Epub 2021 Oct 11.

Department de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

Cocaine addiction causes serious health problems, and no effective treatment is available yet. We previously identified a genetic risk variant for cocaine addiction in the PLCB1 gene and found this gene upregulated in postmortem brains of cocaine abusers and in human dopaminergic neuron-like cells after an acute cocaine exposure. Here, we functionally tested the contribution of the PLCB1 gene to cocaine addictive properties using Plcb1+/- mice. Read More

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October 2021

Analysis of the cerebellar molecular stress response led to first evidence of a role for FKBP51 in brain FKBP52 expression in mice and humans.

Neurobiol Stress 2021 Nov 22;15:100401. Epub 2021 Sep 22.

Max Planck Institute of Psychiatry, Kraepelinstrasse 2-10, 80804, München, Germany.

As the cerebellar molecular stress response is understudied, we assessed protein expression levels of hypothalamic-pituitary-adrenal (HPA) axis regulators and neurostructural markers in the cerebellum of a male PTSD mouse model and of unstressed vs. stressed male FK506 binding protein 51 () knockout (KO) vs. wildtype mice. Read More

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November 2021

Case Report: A Deletion Variant in the Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family.

Front Genet 2021 23;12:741323. Epub 2021 Sep 23.

Department of Endocrinology, University-Town Hospital of Chongqing Medical University, Chongqing, China.

Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal syndrome, and is usually caused by mutations in the gene as an inherited disease. plays an important role in mammalian gonadal development and infertility. So far, there have been no WSS reports in China. Read More

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September 2021

Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion.

Front Genet 2021 23;12:696624. Epub 2021 Sep 23.

Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.

Patients with deletions involving the long arm of chromosome 1 are rare, and the main aim of this study was to refine the genotype-phenotype correlation. In this report, a 28-year-old pregnant woman, gravida 2 para 1, at 25 weeks of gestation underwent ultrasound examination in our institute. The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate; (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) coronary sinus dilatation with persistent left superior vena cava, ventricular septal defect and unroofed coronary sinus syndrome. Read More

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September 2021

Co-existing bipolar disease and 17q12 deletion: a rare case report.

Psychiatr Genet 2021 Oct 7. Epub 2021 Oct 7.

Department of Psychiatry Department of Medical Genetics, Cerrahpaşa School of Medicine, Istanbul University-Cerrahpaşa, Istanbul, Turkey.

Background: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1. Read More

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October 2021

Marek's disease virus encoded miR-M6 and miR-M10 are dispensable for virus replication and pathogenesis in chickens.

Vet Microbiol 2021 Oct 5;262:109248. Epub 2021 Oct 5.

College of Veterinary Medicine, Henan Agricultural University, Zhengzhou, 450002, Henan, People's Republic of China; International Joint Research Center of National Animal Immunology, College of Veterinary Medicine, Henan Agricultural University, Zhengzhou, 450002, Henan, People's Republic of China. Electronic address:

MicroRNAs (miRNAs) are a class of approximately 22 nucleotides long non-coding RNAs, and virus-encoded miRNAs play an important role in pathogenesis. Marek's disease virus (MDV) is an oncogenic avian alphaherpesvirus that causes immunosuppression and tumors in its natural host, chicken. In the MDV genome, 14 miRNA precursors and 26 mature miRNAs were identified, thus MDV has been used as a model to study the function of viral miRNAs in vivo. Read More

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October 2021

Stress adaptation and virulence in Vibrio alginolyticus is mediated by two (p)ppGpp synthetase genes, relA and spoT.

Microbiol Res 2021 Sep 27;253:126883. Epub 2021 Sep 27.

State Key Laboratory of Marine Resource Utilization in the South China Sea, Hainan University, Haikou, 570228, Hainan Province, PR China; Laboratory of Development and Utilization of Marine Microbial Resource, Hainan University, Haikou, 570228, Hainan Province, PR China; Key Laboratory of Tropical Hydrobiology and Biotechnology of Hainan Province, Haikou, Hainan, 570228, PR China; College of Marine Sciences, Hainan University, Haikou, 570228, Hainan Province, PR China. Electronic address:

Vibrio alginolyticus belongs to gram-negative opportunistic pathogen realm infecting humans and aquatic animals causing severe economic losses. The (p)ppGpp-mediated stringent response is corroborated to stress adaptation and virulence of pathogenic mechanisms. Limited reports are documented for the intricate assessment of (p)ppGpp synthetase genes in combating various stress adaptation and elucidation of virulence in V. Read More

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September 2021

6q deletion is frequent but unrelated to patient prognosis in breast cancer.

Breast Cancer 2021 Oct 8. Epub 2021 Oct 8.

Institute of Pathology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.

Background: Deletions involving the long arm of chromosome 6 have been reported to occur in breast cancer, but little is known about the clinical relevance of this alteration.

Methods: We made use of a pre-existing tissue microarray with 2197 breast cancers and employed a 6q15/centromere 6 dual-labeling probe for fluorescence in situ (FISH) analysis RESULTS: Heterozygous 6q15 deletions were found in 202 (18%) of 1099 interpretable cancers, including 19% of 804 cancers of no special type (NST), 3% of 29 lobular cancers, 7% of 41 cribriform cancers, and 28% of 18 cancers with papillary features. Homozygous deletions were not detected. Read More

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October 2021

A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.

Am J Med Genet A 2021 Oct 7. Epub 2021 Oct 7.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

For the efficient diagnosis of rare and undiagnosed diseases, the parallel detection of copy number variants (CNVs) and single nucleotide variants using exome analysis is required. Recently, our group reported the usefulness of a program called EXCAVATOR2, which screens for CNVs from aligned exome data in bam format. This method is expected to contribute to the identification of structural variants and to improve the diagnosis rate, especially for the diagnosis of autosomal recessive disease, when a conventional exome analysis identifies a pathogenic variant in one allele but not the other. Read More

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October 2021

Contribution of HCN1 variant to sinus bradycardia: A case report.

J Arrhythm 2021 Oct 13;37(5):1337-1347. Epub 2021 Jul 13.

Department of Cardiology School of Medicine West Virginia University Morgantown WV USA.

Background: Missense mutations in the hyperpolarization-activated cyclic nucleotide-modulated (HCN) channel 4 (HCN4) are one of the genetic causes of cardiac sinus bradycardia.

Objective: To investigate possible HCN4 channel mutation in a young patient with profound sinus bradycardia.

Methods: Direct sequencing of and whole-exome sequencing were performed on DNA samples from the indexed patient (P), the patient's son (PS), and a family unrelated healthy long-distance running volunteer (V). Read More

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October 2021

Experience-dependent weakening of callosal synaptic connections in the absence of postsynaptic FMRP.

Elife 2021 Oct 7;10. Epub 2021 Oct 7.

Department of Neuroscience, The University of Texas Southwestern Medical Center, Dallas, United States.

Reduced structural and functional interhemispheric connectivity correlates with the severity of Autism Spectrum Disorder (ASD) behaviors in humans. Little is known of how ASD-risk genes regulate callosal connectivity. Here we show that , whose loss-of-function leads to Fragile X Syndrome (FXS), cell autonomously promotes maturation of callosal excitatory synapses between somatosensory barrel cortices in mice. Read More

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October 2021

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

Hum Mol Genet 2021 Oct 7. Epub 2021 Oct 7.

Université Claude Bernard Lyon 1, Université de Lyon, INSERM UMR-S1213, Lyon, France.

Glycogen Storage Disease Type I (GSDI) is an inherited disease caused by glucose-6 phosphatase (G6Pase) deficiency, leading to a loss of endogenous glucose production and severe hypoglycemia. Moreover, most GSDI patients develop a chronic kidney disease (CKD) due to lipid accumulation in the kidney. Similar to diabetic CKD, activation of renin-angiotensin system (RAS) promotes renal fibrosis in GSDI. Read More

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October 2021

Successful treatment of refractory lung adenocarcinoma harboring a germline mutation with olaparib: A case report.

World J Clin Cases 2021 Sep;9(25):7498-7503

Department of Cadre Health, Shanxi Provincial Cancer Hospital, Taiyuan 030013, Shanxi Province, China.

Background: In recent years, targeted therapy and immunotherapy have become important treatment strategies for patients with non-small cell lung cancer (NSCLC). However, the clinical evidence for successful off-label use of targeted drugs for patients with NSCLC following progression on multiple lines of treatment is still lacking.

Case Summary: We describe a 62-year-old male patient with a right lung adenocarcinoma who harbored an exon 19 deletion mutation. Read More

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September 2021

Effect of voluntary running activity on mRNA expression of extracellular matrix genes in a mouse model of intervertebral disc degeneration.

JOR Spine 2021 Sep 5;4(3):e1148. Epub 2021 May 5.

Faculty of Dentistry McGill University Montreal Quebec Canada.

Introduction: Low back pain (LBP), a leading cause of global disability, is often associated with intervertebral disc degeneration (IDD). Exercise therapy is recommended for chronic LBP management and affects many tissues and organ systems. However, the ability of exercise to repair the extracellular matrix (ECM) in degenerating discs is unclear. Read More

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September 2021

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.

Pediatr Nephrol 2021 Oct 4. Epub 2021 Oct 4.

Department of Paediatric Oncology Great Ormond Street Hospital, UCL Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.

Background: Wilms tumour (WT) survivors, especially patients with associated syndromes or genitourinary anomalies due to constitutional WT1 pathogenic variant, have increased risk of kidney failure. We describe the long-term kidney function in children with WT and WT1 pathogenic variant to inform the surgical strategy and oncological management of such complex children.

Methods: Retrospective analysis of patients with WT and constitutional WT1 pathogenic variant treated at a single centre between 1993 and 2016, reviewing genotype, phenotype, tumour histology, laterality, treatment, patient survival, and kidney outcome. Read More

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October 2021

Mechanisms for Electron Uptake by Methanosarcina acetivorans during Direct Interspecies Electron Transfer.

mBio 2021 Oct 5:e0234421. Epub 2021 Oct 5.

Department of Microbiology, University of Massachusetts-Amherst, Amherst, Massachusetts, USA.

Direct interspecies electron transfer (DIET) between bacteria and methanogenic archaea appears to be an important syntrophy in both natural and engineered methanogenic environments. However, the electrical connections on the outer surface of methanogens and the subsequent processing of electrons for carbon dioxide reduction to methane are poorly understood. Here, we report that the genetically tractable methanogen Methanosarcina acetivorans can grow via DIET in coculture with Geobacter metallireducens serving as the electron-donating partner. Read More

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October 2021

Ribosomal stress induces 2-cell embryo-like state transition of the mouse ESCs through p53 activation.

Biochem Biophys Res Commun 2021 Nov 27;579:175-180. Epub 2021 Sep 27.

Medical School, Osaka University, Yamada-oka 2-2, Suita, Osaka, 565-0871, Japan. Electronic address:

Embryonic stem cells (ESCs) maintain a pluripotent state and genome integrity in long-term culture. A rare population of ESCs showing 2-cell embryo-specific gene expression is believed to play critical roles in sustainable pluripotency and genome stability. However, the molecular mechanism controlling this transition to a 2-cell embryo-like (2CL) state remains unclear. Read More

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November 2021

Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Mol Syndromol 2021 Aug 20;12(5):305-311. Epub 2021 Jul 20.

Hospital General de Mexico, National Autonomous University of Mexico, Mexico City, Mexico.

Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including the and genes, is sufficient to cause this syndrome. Read More

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Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.

Mol Syndromol 2021 Aug 15;12(5):300-304. Epub 2021 Jul 15.

2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.

A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspicion prompted genetic investigations for Silver-Russell syndrome and related disorders. SNP array analysis led to the diagnosis of an approximately 10-Mb large deletion of the long arm in chromosome 16q22. Read More

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N-(4-acetamidophenyl)-5-acetylfuran-2-carboxamide as a novel orally available diuretic that targets urea transporters with improved PD and PK properties.

Eur J Med Chem 2021 Sep 24;226:113859. Epub 2021 Sep 24.

Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing, 100191, China; State Key Laboratory of Natural and Biomimetic Drugs, Peking University, Beijing, 100191, China. Electronic address:

Urea transporters (UTs) have been identified as new targets for diuretics. Functional deletion of UTs led to urea-selective urinary concentrating defects with relative salt sparing. In our previous study, a UT inhibitor with a diarylamide scaffold, which is denoted as 11a, was demonstrated as the first orally available UT inhibitor. Read More

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September 2021

Rim101-upregulated Fets contribute to dark pigment formation in gray cells of Candida albicans.

Acta Biochim Biophys Sin (Shanghai) 2021 Oct 2. Epub 2021 Oct 2.

State Key Laboratory of Molecular Biology, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai 200031, China.

Candida albicans has long been known to switch between white and opaque phases; however, a third cell type, referred to as the 'gray' phenotype, was recently characterized. The three phenotypes have different colonial morphologies, with white cells forming white-colored colonies and opaque and gray cells forming dark-colored colonies. We previously showed that Wor1-upregulated ferroxidases (Fets) function as pigment multicopper oxidases that regulate the production of dark-pigmented melanin in opaque cells. Read More

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October 2021