Association analysis between the tag single nucleotide polymorphisms of DENND1A and the risk of polycystic ovary syndrome in Chinese Han women
The DENND1A gene is one of the most important sites associated with polycystic ovary syndrome (PCOS). We attempted to analyze the correlation between five single nucleotide polymorphisms (SNPs) in the DENND1A gen... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 15, 2020 Category: Genetics & Stem Cells Authors: Ya-nan Zhu, Yi-ting Zhang, Qin Liu, Shan-mei Shen, Xiang Zou, Yun-xia Cao, Wen-jun Wang, Long Yi, Qian Gao, Wei-dong Yang and Yong Wang Tags: Research article Source Type: research
Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and op... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 14, 2020 Category: Genetics & Stem Cells Authors: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojat, Abdol-Mohammad Kajbafzadeh and Mohammad Reza Noori-Daloii Tags: Case report Source Type: research
Assessment of cellular cobalamin metabolism in Gaucher disease
Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Cl... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 13, 2020 Category: Genetics & Stem Cells Authors: Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal and Ida Vanessa Doederlein Schwartz Tags: Research article Source Type: research
MicroRNA-19b-3p promotes cell proliferation and osteogenic differentiation of BMSCs by interacting with lncRNA H19
To investigated the role of miR-19b-3p in regulating bone marrow mesenchymal stem cell (BMSC) proliferation and osteoblast differentiation. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 9, 2020 Category: Genetics & Stem Cells Authors: Gan Xiaoling, Liu Shuaibin and Liang Kailu Tags: Research article Source Type: research
Angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to psoriasis: a systematic review and meta-analysis
Psoriasis is a multifactorial disorder, impacted by both genetic and environmental factors. Herein, a meta-analysis assessed the association of angiotensin-converting enzyme gene insertion/deletion (ACE I/D) poly... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 8, 2020 Category: Genetics & Stem Cells Authors: Mazaher Ramezani, Elisa Zavattaro and Masoud Sadeghi Tags: Research article Source Type: research
Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency
Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 8, 2020 Category: Genetics & Stem Cells Authors: Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang and Yu Hu Tags: Research article Source Type: research
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
We report for the first time a case of schizophrenia in a child wit... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 8, 2020 Category: Genetics & Stem Cells Authors: Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Doroth ée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily and Gaëtan Lesca Tags: Case report Source Type: research
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on cl... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 7, 2020 Category: Genetics & Stem Cells Authors: Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth and Tessa Homfray Tags: Case report Source Type: research
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, whic... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 6, 2020 Category: Genetics & Stem Cells Authors: Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao and Tianli Fan Tags: Case report Source Type: research
Association between serotonin 2A receptor (HTR2A) genetic variations and risk of hypertension in a community-based cohort study
Hypertension is one of the risk factors for obesity-related cardiovascular diseases. We investigated whether genetic variations in serotonin 2A receptor (HTR2A) were associated with hypertension. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 6, 2020 Category: Genetics & Stem Cells Authors: Jung Ran Choi, Minhee Jeon and Sang Baek Koh Tags: Research article Source Type: research
Alpha and beta-Thalassemia mutations in Hubei area of China
Thalassemia is a group of inherited hemoglobic disorders resulting from defects (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 6, 2020 Category: Genetics & Stem Cells Authors: Yaowu Zhu, Na Shen, Xiong Wang, Juan Xiao and Yanjun Lu Tags: Research article Source Type: research
lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma
This study aimed to investigate the interactions among these 3 facto... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 3, 2020 Category: Genetics & Stem Cells Authors: Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou and Lin Ye Tags: Research article Source Type: research
Rapid response of stage IV colorectal cancer with APC/TP53/KRAS mutations to FOLFIRI and Bevacizumab combination chemotherapy: a case report of use of liquid biopsy
Liquid biopsies of blood plasma cell free DNA can be used to monitor treatment response and potentially detect mutations that are present in resistant clones in metastatic cancer patients. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 3, 2020 Category: Genetics & Stem Cells Authors: Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph R öcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke and Michael Forster Tags: Case report Source Type: research
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1 –5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 2, 2020 Category: Genetics & Stem Cells Authors: Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer and Marc Bassim Tags: Research article Source Type: research
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 30, 2019 Category: Genetics & Stem Cells Authors: Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao and Hui Lu Tags: Case report Source Type: research
