Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China
Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpos... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 28, 2020 Category: Genetics & Stem Cells Authors: Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu and Can Liao Tags: Research article Source Type: research
Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study
Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-dependent calcium channels (VDCCs), the variations in these genes m... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 28, 2020 Category: Genetics & Stem Cells Authors: Lifan Huang, Yan Chu, Xiaoqin Huang, Shaohui Ma, Keqin Lin, Kai Huang, Hao Sun and Zhaoqing Yang Tags: Research article Source Type: research
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing
von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 27, 2020 Category: Genetics & Stem Cells Authors: Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar and Xin Lu Tags: Case report Source Type: research
Correction to: Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population
Following publication of the original article [1], the authors have flagged that the article has published with an error in the order of the affiliations. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 24, 2020 Category: Genetics & Stem Cells Authors: S. Razak, N. Bibi, J. A. Dar, T. Afsar, A. Almajwal, Z. Parveen and S. Jahan Tags: Correction Source Type: research
Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scoring system
Sarcopenia is a skeletal muscle disease of clinical importance that occurs commonly in old age and in various disease sub-categories. Widening the scope of knowledge of the genetics of muscle mass and strength... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 24, 2020 Category: Genetics & Stem Cells Authors: Abhishek Narain Singh and Bili Gasman Tags: Research article Source Type: research
Association of ABO polymorphisms and pancreatic Cancer/ Cardiocerebrovascular disease: a meta-analysis
In this study, we conducted a syste... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 24, 2020 Category: Genetics & Stem Cells Authors: Yanxia Li, Luyang Liu, Yubei Huang, Hong Zheng and Lian Li Tags: Research article Source Type: research
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene
Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isol... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 21, 2020 Category: Genetics & Stem Cells Authors: Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing and Linda A. Baker Tags: Research article Source Type: research
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation
The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulf... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 19, 2020 Category: Genetics & Stem Cells Authors: Rachel Sayuri Honjo, Evelyn Cristina Nu ñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins and Chong Ae Kim Tags: Case report Source Type: research
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 17, 2020 Category: Genetics & Stem Cells Authors: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff Jr, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown and Hamish S. Scott Tags: Research article Source Type: research
Analysis on the polymorphisms of site RS4977574, and RS1333045 in region 9p21 and the susceptibility of coronary heart disease in Chinese population
Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with coronary artery disease, locating on chromosome 9p21.3. The study aimed to identify the correlation between ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 17, 2020 Category: Genetics & Stem Cells Authors: Lei Hua, Jin-Xia Yuan, Shu He, Chen-Hui Zhao, Qiao-Wei Jia, Jing Zhang, Feng-Hui An, Zhao-Hong Chen, Li-Hua Li, Lian-Sheng Wang, Wen-Zhu Ma, Guang-Xu Xu and En-Zhi Jia Tags: Research article Source Type: research
Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia
Tudor domain-containing proteins (TDRDs) play a critical role in piRNA biogenesis and germ cell development. piRNAs, small regulatory RNAs, act by silencing of transposons during germline development and it ha... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 14, 2020 Category: Genetics & Stem Cells Authors: Emad Babakhanzadeh, Ali Khodadadian, Saadi Rostami, Iraj Alipourfard, Mohsen Aghaei, Majid Nazari, Mehdi Hosseinnia, Mohammad Yahya Vahidi Mehrjardi, Yalda Jamshidi and Nasrin Ghasemi Tags: Research article Source Type: research
Salivary epigenetic biomarkers as predictors of emerging childhood obesity
Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 14, 2020 Category: Genetics & Stem Cells Authors: Amanda Rushing, Evan C. Sommer, Shilin Zhao, Eli K. Po ’e and Shari L. Barkin Tags: Research article Source Type: research
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 12, 2020 Category: Genetics & Stem Cells Authors: Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang and Huijun Wang Tags: Case report Source Type: research
Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma
The involvement of cytokines in pathogenesis of pseudoexfoliation syndrome and glaucoma has been demonstrated in several studies. The aim of the present study was to explore the association between three promo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 12, 2020 Category: Genetics & Stem Cells Authors: Ghasem Fakhraie, Farshid Parvini, Jalaledin Ghanavi, Shima Saif and Poopak Farnia Tags: Research article Source Type: research
In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study
PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic de... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - February 12, 2020 Category: Genetics & Stem Cells Authors: Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola and Chandrika Wijeyaratne Tags: Research article Source Type: research
