Ancestry effects on type 2 diabetes genetic risk inference in Hispanic/Latino populations
Hispanic/Latino (HL) populations bear a disproportionately high burden of type 2 diabetes (T2D). The ability to predict T2D genetic risk using polygenic risk scores (PRS) offers great promise for improved scre... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 25, 2020 Category: Genetics & Stem Cells Authors: Aroon T. Chande, Lavanya Rishishwar, Andrew B. Conley, Augusto Valderrama-Aguirre, Miguel A. Medina-Rivas and I. King Jordan Tags: Research Source Type: research
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnor... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 23, 2020 Category: Genetics & Stem Cells Authors: Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan and ZhongqinJin Tags: Case report Source Type: research
MiRNA155HG polymorphisms influenced the risk of liver cancer among the Han Chinese population
Liver cancer is one of the most common cancers in the world. The primary aim of this research was to discover the correlation between single nucleotide polymorphisms (SNPs) of the MIR155HG and liver cancer risk. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 19, 2020 Category: Genetics & Stem Cells Authors: Xu Chao, Xuesong Feng, Xiaoping Wang, Hailong Shi, Hong Li, Yuewen Wang, Lanlan Wang, Haiyu Shen, Qing Zha and Yanni Chen Tags: Research article Source Type: research
Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 18, 2020 Category: Genetics & Stem Cells Authors: Yingjie Sun, Xiangdong Kong, Zhenhua Zhao and Xuechao Zhao Tags: Research article Source Type: research
Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton ’s tyrosine kinase (BTK) gene mutations
X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. H... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 17, 2020 Category: Genetics & Stem Cells Authors: Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang and Xiangdong Kong Tags: Research article Source Type: research
Clinical significance and biological mechanisms of glutathione S-transferase mu gene family in colon adenocarcinoma
Colon adenocarcinoma (COAD) is the most common form of colon cancer. The glutathione S-transferase Mu (GSTM) gene belongs to the GST gene family, which functions in cell metabolism and detoxification. The relatio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 15, 2020 Category: Genetics & Stem Cells Authors: Erna Guo, Haotang Wei, Xiwen Liao, Liuyu Wu and Xiaoyun Zeng Tags: Research article Source Type: research
Genetic variants of VDR and CYP2R1 affect BMI independently of serum vitamin D concentrations
Vitamin D metabolism and obesity have been linked by several studies, however the reason for this association is unclear. Our objective was to investigate potential correlations between genetic variants in key... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 13, 2020 Category: Genetics & Stem Cells Authors: Bence Bakos, Bal ázs Szili, Boglárka Szabó, Péter Horváth, Gyöngyi Kirschner, János P. Kósa, Erzsébet Toldy, Péter Lakatos, Ádám G. Tabák and István Takács Tags: Research article Source Type: research
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype
Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, b... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 12, 2020 Category: Genetics & Stem Cells Authors: Annamaria Sapuppo, Piero Pavone, Andrea Domenico Pratic ò, Martino Ruggieri, Gaetano Bertino and Agata Fiumara Tags: Case report Source Type: research
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) cons... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 9, 2020 Category: Genetics & Stem Cells Authors: Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi and Mohammad Amin Tabatabaiefar Tags: Research article Source Type: research
A Chinese case of Nakajo –Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene
Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSM... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 8, 2020 Category: Genetics & Stem Cells Authors: Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang and Songmei Geng Tags: Case report Source Type: research
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The synd... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 5, 2020 Category: Genetics & Stem Cells Authors: Brigitte Glanzmann, Marlo M öller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser and Craig J. Kinnear Tags: Case report Source Type: research
Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania
Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the leve... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 5, 2020 Category: Genetics & Stem Cells Authors: Siana Nkya, Liberata Mwita, Josephine Mgaya, Happiness Kumburu, Marco van Zwetselaar, Stephan Menzel, Gaston Kuzamunu Mazandu, Raphael Sangeda, Emile Chimusa and Julie Makani Tags: Research article Source Type: research
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis
Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expressio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 3, 2020 Category: Genetics & Stem Cells Authors: Amal Bouzid, Adel Tekari, Fida Jbeli, Amine Chakroun, Kirtal Hansdah, Amal Souissi, Neha Singh, Mohamed Ali Mosrati, Imen Achour, Abdelmonem Ghorbel, Ilhem Charfeddine, Puppala Venkat Ramchander and Saber Masmoudi Tags: Research article Source Type: research
A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia
Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in var... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 3, 2020 Category: Genetics & Stem Cells Authors: Weiwei Yu, Haiqiang Jin, Jianwen Deng, Ding Nan and Yining Huang Tags: Research article Source Type: research
The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report
Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. Although it has been recognized as one of the ge... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 1, 2020 Category: Genetics & Stem Cells Authors: Bo Bai, Meng Zhang, Yihao Zhuang, Jirong Zhu, Wenjing Li, Wei Ma and Haibo Chen Tags: Case report Source Type: research
