Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease
Familial benign chronic pemphigus, also known as Hailey-Hailey disease (HHD), is a clinically rare bullous Dermatosis. However the mechanism has not been clarified. The study aim to detect novel mutations in e... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 1, 2020 Category: Genetics & Stem Cells Authors: Xiaoli Li, Dingwei Zhang, Jiahui Ding, Li Li and Zhenghui Wang Tags: Research article Source Type: research
A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 1, 2020 Category: Genetics & Stem Cells Authors: Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang and Fengchan Han Tags: Research article Source Type: research
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 29, 2020 Category: Genetics & Stem Cells Authors: Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo and Yan Liang Tags: Research article Source Type: research
Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report
Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 27, 2020 Category: Genetics & Stem Cells Authors: Heye Chen, Wei Yao, Qing He, Xuefang Yu and Bo Bian Tags: Case report Source Type: research
The association between genetic variants in lactotransferrin and dental caries: a meta- and gene-based analysis
The pathogenesis of dental caries remains unclear, with increasing evidence suggesting that genetic susceptibility plays an essential role. Previous studies have reported the association between genetic polymo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 27, 2020 Category: Genetics & Stem Cells Authors: Xueyan Li, Yi Su, Di Liu and Jingyun Yang Tags: Research article Source Type: research
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant M... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 27, 2020 Category: Genetics & Stem Cells Authors: Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Zhihong Wu and Nan Wu Tags: Research article Source Type: research
Genetic variation in toll like receptors 2, 7, 9 and interleukin-6 is associated with cytomegalovirus infection in late pregnancy
Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV stat... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 25, 2020 Category: Genetics & Stem Cells Authors: Doreen Z. Mhandire, Kudakwashe Mhandire, Mulalo Magadze, Ambroise Wonkam, Andre P. Kengne and Collet Dandara Tags: Research article Source Type: research
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accu... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 24, 2020 Category: Genetics & Stem Cells Authors: L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib and S Laradi Tags: Research article Source Type: research
A novel ultra-sensitive method for the detection of FGFR3 mutations in urine of bladder cancer patients – Design of the Urodiag® PCR kit for surveillance of patients with non-muscle-invasive bladder cancer (NMIBC)
We have recently developed a highly accurate urine-based test, named Urodiag ®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 24, 2020 Category: Genetics & Stem Cells Authors: Jean-Pierre Roperch and Claude Hennion Tags: Technical advance Source Type: research
Association of preeclampsia with infant APOL1 genotype in African Americans
Black women in the United States and Africa are at an increased risk for preeclampsia. Allelic variants in the gene for apolipoprotein LI, APOL1, are found only in populations of African ancestry, and have been s... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 20, 2020 Category: Genetics & Stem Cells Authors: Anna K. Miller, Timur Azhibekov, John F. O ’Toole, John R. Sedor, Scott M. Williams, Raymond W. Redline and Leslie A. Bruggeman Tags: Research article Source Type: research
LARS2-Perrault syndrome: a new case report and literature review
Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different gen... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 18, 2020 Category: Genetics & Stem Cells Authors: Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, H élène Cao-van, Nils Guinand and Ariane Paoloni-Giacobino Tags: Case report Source Type: research
Associations of mitochondrial DNA 3777 –4679 region mutations with maternally inherited essential hypertensive subjects in China
Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 15, 2020 Category: Genetics & Stem Cells Authors: Ye Zhu, Jia You, Chao Xu and Xiang Gu Tags: Research article Source Type: research
Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer ’s disease endophenotypes
Current sequencing technologies have provided for a more comprehensive genome-wide assessment and have increased genotyping accuracy of rare variants. Scan statistic approaches have previously been adapted to ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 15, 2020 Category: Genetics & Stem Cells Authors: Yuriko Katsumata and David W. Fardo Tags: Software Source Type: research
HTRA1 rs11200638 variant and AMD risk from a comprehensive analysis about 15,316 subjects
The high-temperature requirement factor A1 (HTRA1) gene located at 10q26 locus has been associated with age-related macular degenerative (AMD), with the significantly related polymorphism being (rs11200638, −6... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 15, 2020 Category: Genetics & Stem Cells Authors: Ying Liu, Huipeng Jin, Dong Wei and Wenxiu Li Tags: Research article Source Type: research
Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis
Beta ( β)-thalassemia is one of the most common inherited disorders worldwide, with high prevalence in the Mediterranean, the Middle East and South Asia. Over the past 40 years, awareness and prevention campaig... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 15, 2020 Category: Genetics & Stem Cells Authors: Ghazala Hashmi, Asim Qidwai, Kristopher Fernandez and Michael Seul Tags: Research article Source Type: research
