Hepcidin gene polymorphisms and iron overload in β-thalassemia major patients refractory to iron chelating therapy
β Thalassemia is one of the most common groups of hereditary haemoglobinopathies. Affected people with thalassemia major are dependent on regular blood transfusion which on the long term leads to iron overload... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 8, 2020 Category: Genetics & Stem Cells Authors: Parinaz Zarghamian, Azita Azarkeivan, Ali Arabkhazaeli, Ahmad Mardani and Majid Shahabi Tags: Research article Source Type: research
Association between FCGR2A rs1801274 and MUC5B rs35705950 variations and pneumonia susceptibility
Herein, we collected currently published data to comprehensively evaluate the impact of the FCGR2A (Fc fragment of IgG receptor IIa) rs1801274 and MUC5B (mucin 5B, oligomeric mucus/gel-forming) rs35705950 variati... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 6, 2020 Category: Genetics & Stem Cells Authors: Xueshu Shi, Yue Ma, Haiyan Li and Huanxin Yu Tags: Research article Source Type: research
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either o... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 6, 2020 Category: Genetics & Stem Cells Authors: Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng and Xin Fan Tags: Case report Source Type: research
New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling
Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000 –3000) autosomal-dominant disorder with high risk of venous thromboembolis... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 6, 2020 Category: Genetics & Stem Cells Authors: Margarita E. Polyak and Elena V. Zaklyazminskaya Tags: Case report Source Type: research
Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability
The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 3, 2020 Category: Genetics & Stem Cells Authors: Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili and Mei Shiyue Tags: Case report Source Type: research
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation
Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 3, 2020 Category: Genetics & Stem Cells Authors: Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, Kevin Colclough, Conor Woods and Maria Byrne Tags: Case report Source Type: research
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 31, 2020 Category: Genetics & Stem Cells Authors: Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami Tags: Case report Source Type: research
Association between the IL-10 and IL-6 polymorphisms and brucellosis susceptibility: a meta-analysis
Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 ( − 1082 G/A, − 819 C/T, − 592C/A) and IL-6 -174 G/C polymorphis... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 30, 2020 Category: Genetics & Stem Cells Authors: Xiaochun Jin, Yueyuan Wu, Shuzhou Yin, Xu Chen and Youtao Zhang Tags: Research article Source Type: research
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report
The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been assoc... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 30, 2020 Category: Genetics & Stem Cells Authors: Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren and Elise Gradhand Tags: Case report Source Type: research
Obesity-related loci in TMEM18, CDKAL1 and FAIM2 are associated with obesity and type 2 diabetes in Chinese Han patients
Several obesity susceptibility loci in genes, including GNPDA2, SH2B1, TMEM18, MTCH2, CDKAL1, FAIM2, and MC4R, have been identified by genome-wide association studies. The purpose of this study was to investigate... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 30, 2020 Category: Genetics & Stem Cells Authors: Jing Kang, Ren-Chu Guan, Ying Zhao and Yan Chen Tags: Research article Source Type: research
Identification of novel biomarkers in ischemic stroke: a genome-wide integrated analysis
Ischemic Stroke (IS) is the most common neurological emergency disease and has become the second most frequent cause of death after coronary artery disease in 2015. Owing to its high fatality rate and narrow t... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 30, 2020 Category: Genetics & Stem Cells Authors: Qizhi Xie, Xiaoyun Zhang, Sijia Peng, Jingjing Sun, Xiao Chen, Yuanfei Deng and Li Yi Tags: Research article Source Type: research
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 30, 2020 Category: Genetics & Stem Cells Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang Tags: Case report Source Type: research
A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary
Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryot... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 27, 2020 Category: Genetics & Stem Cells Authors: Andrea S ümegi, Zoltán Hendrik, Tamás Gáll, Enikő Felszeghy, Katalin Szakszon, Péter Antal-Szalmás, Lívia Beke, Ágnes Papp, Gábor Méhes, József Balla and György Balla Tags: Research article Source Type: research
Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcification
To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and IL1F9 (rs13415097) single nucleotide polymorphisms (SNPs) with coronary artery calcification (CAC), an importan... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 27, 2020 Category: Genetics & Stem Cells Authors: Sonali Pechlivanis, Amir A. Mahabadi, Per Hoffmann, Markus M. N öthen, Martina Broecker-Preuss, Raimund Erbel, Susanne Moebus, Andreas Stang and Karl-Heinz Jöckel Tags: Research article Source Type: research
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant l... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 24, 2020 Category: Genetics & Stem Cells Authors: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir and Henry Houlden Tags: Research article Source Type: research
