Retraction Note: lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma
An amendment to this paper has been published and can be accessed via the original article. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 12, 2021 Category: Genetics & Stem Cells Authors: Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou and Lin Ye Tags: Retraction Note Source Type: research
A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population
Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 17, 2020 Category: Genetics & Stem Cells Authors: Jung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, Suhg Namgoong, Hyun Sub Cheong, Lyoung Hyo Kim, Ji On Kim, Hyoung Doo Shin and Yoon Jun Kim Tags: Research article Source Type: research
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive d... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 12, 2020 Category: Genetics & Stem Cells Authors: Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili and Abdelaziz Sefiani Tags: Research article Source Type: research
DGAT1 mutations leading to delayed chronic diarrhoea: a case report
Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 1, 2020 Category: Genetics & Stem Cells Authors: Luojia Xu, Weizhong Gu, Youyou Luo, Jingan Lou and Jie Chen Tags: Case report Source Type: research
Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation
Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug res... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 30, 2020 Category: Genetics & Stem Cells Authors: Mariam Goubran, Ayodeji Aderibigbe, Emmanuel Jacquemin, Catherine Guettier, Safwat Girgis, Vincent Bain and Andrew L. Mason Tags: Case report Source Type: research
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin and Jing Peng Tags: Case report Source Type: research
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel and Carina Kelbsch Tags: Case report Source Type: research
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype
Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microsco... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: R üdiger Schultz, Varpu Elenius, Heikki Lukkarinen and Tanja Saarela Tags: Research article Source Type: research
Mice lacking global Stap1 expression do not manifest hypercholesterolemia
Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identi... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Babunageswararao Kanuri, Vincent Fong, April Haller, David Y. Hui and Shailendra B. Patel Tags: Research article Source Type: research
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan
Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income count... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Zhen Zhang, Yi-shuang Xiao, Ru Shen, Hong-chao Jiang, Li Tan, Ren-qiu Li, Xiao-hong Yang, Huai-yu Gu, Wen-Ji He and Jing Ma Tags: Research article Source Type: research
Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection
Genetic factors may influence the susceptibility to high-risk (hr) human papillomavirus (HPV) infection and persistence. We conducted the first genome-wide association study (GWAS) to identify variants associa... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Sally N. Adebamowo, Adebowale A. Adeyemo, Charles N. Rotimi, Olayinka Olaniyan, Richard Offiong and Clement A. Adebamowo Tags: Research article Source Type: research
Interleukin-4 gene polymorphism (C33T) and the risk of the asthma: a meta-analysis based on 24 publications
Previous studies evaluated the association of IL-4 C33T polymorphism and risk of bronchial asthma but failed to establish a consistent conclusive association. In the present meta-analysis, we intend to define ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Danyal Imani, Mohammad Masoud Eslami, Gholamreza Anani-Sarab, Mansur Aliyu, Bahman Razi and Ramazan Rezaei Tags: Research article Source Type: research
Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre
Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Paula Sienes Bailo, Raquel Lahoz, Juan Pelegr ín Sánchez Marín and Silvia Izquierdo Álvarez Tags: Research article Source Type: research
Characterization of an N-terminal Nav1.5 channel variant – a potential risk factor for arrhythmias and sudden death?
Alterations in the SCN5A gene encoding the cardiac sodium channel Nav1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative ca... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 19, 2020 Category: Genetics & Stem Cells Authors: Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel and Silke Kauferstein Tags: Research article Source Type: research
Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk
Though bladder cancer has been the subject of many well-powered genome-wide association studies, the mechanisms involving bladder-cancer-associated single nucleotide polymorphisms (SNPs) remain largely unknown... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 19, 2020 Category: Genetics & Stem Cells Authors: Kristina M. Jordahl, Amanda I. Phipps, Timothy W. Randolph, Lesley F. Tinker, Rami Nassir, Lifang Hou, Garnet L. Anderson, Karl T. Kelsey, Emily White and Parveen Bhatti Tags: Research article Source Type: research
