Association of tumor necrosis factor- α gene polymorphisms and coronary artery disease susceptibility: a systematic review and meta-analysis
The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor- α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 11, 2020 Category: Genetics & Stem Cells Authors: Rui Huang, Su-Rui Zhao, Ya Li, Fang Liu, Yue Gong, Jun Xing and Ze-Sheng Xu Tags: Research article Source Type: research
Serum miR-101-3p combined with pepsinogen contributes to the early diagnosis of gastric cancer
This study aimed to explore the diagnostic value of serum miR-101-3p combined with pepsinogen (PG) on early diagnosis of gastric cancer (GC). (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 10, 2020 Category: Genetics & Stem Cells Authors: Weiwei Zeng, Shuxiang Zhang, Lei Yang, Wenchao Wei, Jie Gao, Ni Guo and Fengting Wu Tags: Research article Source Type: research
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review
Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. T... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 10, 2020 Category: Genetics & Stem Cells Authors: Dan-Dan Wang, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Ping Xu and Ji-Hong Wu Tags: Review Source Type: research
A rare combination of MODY5 and duodenal atresia in a patient: a case report
Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of hereditary diabetes, generally caused by one abnormal gene. MODY5 is caused by mutations of the hepatocyte nuc... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 6, 2020 Category: Genetics & Stem Cells Authors: Tao Du, Nan Zeng, Xiaofang Wen, Peizhuang Zhu and Wangen Li Tags: Case report Source Type: research
Analysis of association between common variants of uncoupling proteins genes and diabetic retinopathy in a Chinese population
The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 6, 2020 Category: Genetics & Stem Cells Authors: Peiyao Jin, Zhiqiang Li, Xian Xu, Jiangnan He, Jianhua Chen, Xun Xu, Xuan Du, Xuelin Bai, Bo Zhang, Xiangui He, Lina Lu, Jianfeng Zhu, Yongyong Shi and Haidong Zou Tags: Research article Source Type: research
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few case... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 6, 2020 Category: Genetics & Stem Cells Authors: Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad and Soumaya Mougou-Zerelli Tags: Research article Source Type: research
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson ’s disease in Black South African and Nigerian patients
The prevalence of Parkinson ’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan Africa... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 4, 2020 Category: Genetics & Stem Cells Authors: Oluwafemi G. Oluwole, Helena Kuivaniemi, Shameemah Abrahams, William L. Haylett, Alvera A. Vorster, Carel J. van Heerden, Colin P. Kenyon, David L. Tabb, Michael B. Fawale, Taofiki A. Sunmonu, Abiodun Ajose, Matthew O. Olaogun, Anastasia C. Rossouw, Ludo Tags: Research article Source Type: research
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene
Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 3, 2020 Category: Genetics & Stem Cells Authors: Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar and Mohammad Ali Faghihi Tags: Case report Source Type: research
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 31, 2020 Category: Genetics & Stem Cells Authors: Krista Heli ö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö and Juha W. Koskenvuo Tags: Research article Source Type: research
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusiv... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 31, 2020 Category: Genetics & Stem Cells Authors: Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit and Ahmed Bilal Waqar Tags: Research article Source Type: research
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome
More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the di... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 31, 2020 Category: Genetics & Stem Cells Authors: Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek and Ranuccio Nuti Tags: Research article Source Type: research
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar pedun... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 30, 2020 Category: Genetics & Stem Cells Authors: Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do and Minh-Tuan Huynh Tags: Case report Source Type: research
Relationship between vascular endothelial growth factor -2578C > a gene polymorphism and lung cancer risk: a meta-analysis
Several reports were published on the relationship between the vascular endothelial growth factor (VEGF) -2578C> A gene polymorphism and lung cancer risk; however, the results are debatable. This meta-analysi... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 29, 2020 Category: Genetics & Stem Cells Authors: Hui-liu Zhao, Jia-hua Yu, Ling-sha Huang, Pei-zhang Li, Ming Lao, Bo Zhu and Chao Ou Tags: Research article Source Type: research
Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a con... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 22, 2020 Category: Genetics & Stem Cells Authors: Panpan Ye, Jia Xu, Yueqiu Luo, Zhitao Su and Ke Yao Tags: Research article Source Type: research
A case report of Proteus syndrome (PS)
Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - January 21, 2020 Category: Genetics & Stem Cells Authors: Xiaoyun Zeng, Xiaoming Wen, Xinxin Liang, Lina Wang and Lingling Xu Tags: Case report Source Type: research
