A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family
Synpolydactyly type 1 (SPD1), also known as syndactyly type II, is an autosomal dominant limb deformity generally results in webbing of 3rd and 4th fingers, duplication of 4th or 5th toes. It is most commonly ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 23, 2019 Category: Genetics & Stem Cells Authors: Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan & hellip; Tags: Research article Source Type: research
Vitamin D receptor ApaI polymorphism associated with progression of liver disease in Vietnamese patients chronically infected with hepatitis B virus
Vitamin D derivatives and their receptor (VDR) are potent modulators of immune responses in various diseases including malignancies as well as in metabolic and infectious disorders. The impact of vitamin D rec... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 21, 2019 Category: Genetics & Stem Cells Authors: Nghiem Xuan Hoan, Nguyen Khuyen, Dao Phuong Giang, Mai Thanh Binh, Nguyen Linh Toan, Do Tuan Anh, Ngo Tat Trung, Mai Hong Bang, Christian G. Meyer, Thirumalaisamy P. Velavan and Le Huu Song Tags: Research article Source Type: research
POLE mutations improve the prognosis of endometrial cancer via regulating cellular metabolism through AMF/AMFR signal transduction
The morbidity and mortality of endometrial tumors, a common type of malignant cancer in women, have increased in recent years. POLE encodes the DNA polymerase ε, which is responsible for the leading strand DNA... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 21, 2019 Category: Genetics & Stem Cells Authors: Yiran Li, Yiding Bian, Kai Wang and Xiao-Ping Wan Tags: Research article Source Type: research
Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. Howev... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 19, 2019 Category: Genetics & Stem Cells Authors: Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang and Qinglin Kang Tags: Research article Source Type: research
Broadening the phenotype of the TWNK gene associated Perrault syndrome
We present the case of a 33 years old ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 18, 2019 Category: Genetics & Stem Cells Authors: B álint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos and Maria Judit Molnar Tags: Case report Source Type: research
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 18, 2019 Category: Genetics & Stem Cells Authors: Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad and Asma Gul Tags: Research article Source Type: research
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital catar... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 16, 2019 Category: Genetics & Stem Cells Authors: Shan Li, Jianfei Zhang, Yixuan Cao, Yi You and Xiuli Zhao Tags: Research article Source Type: research
LRCH1 polymorphisms linked to delayed encephalopathy after acute carbon monoxide poisoning identified by GWAS analysis followed by Sequenom MassARRAY ® validation
We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poison... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 16, 2019 Category: Genetics & Stem Cells Authors: Jiapeng Gu, Jiao Zeng, Xi Wang, Xin Gu, Xiaoli Zhang, Ping Zhang, Fan Zhang, Yongkai Han, Yazhou Han, Hongxing Zhang, Wenqiang Li and Renjun Gu Tags: Research article Source Type: research
Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
Please be advised that following publication of the original article [1], the authors have identified the following errors with the scientific content. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 12, 2019 Category: Genetics & Stem Cells Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadheland and Xue Zhang Tags: Correction Source Type: research
Association of vitamin D receptor TaqI and ApaI genetic polymorphisms with nephrolithiasis and end stage renal disease: a meta-analysis
The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for t... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 10, 2019 Category: Genetics & Stem Cells Authors: Tajamul Hussain, Shaik M. Naushad, Anwar Ahmed, Salman Alamery, Arif A. Mohammed, Mohamed O. Abdelkader and Nasser Abobakr Nasser Alkhrm Tags: Research article Source Type: research
Novel gene mutation in von Hippel-Lindau disease – a report of two cases
Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported. Different ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 10, 2019 Category: Genetics & Stem Cells Authors: Jitian Wang, Wenjie Cao, Zhaoxia Wang and Hong Zhu Tags: Case report Source Type: research
An analysis of mutational signatures of synonymous mutations across 15 cancer types
Synonymous mutations have been identified to play important roles in cancer development, although they do not modify the protein sequences. However, relatively little research has specifically delineated the f... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 9, 2019 Category: Genetics & Stem Cells Authors: Yannan Bin, Xiaojuan Wang, Le Zhao, Pengbo Wen and Junfeng Xia Tags: Research Source Type: research
Identification of key pathways and genes in PTEN mutation prostate cancer by bioinformatics analysis
Prostate cancer (Pca) remains one of the leading adult malignancies. PTEN (Phosphatase and Tensin Homolog) mutant is the top common mutated genes in prostate cancer, which makes it a promising biomarker in fut... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 2, 2019 Category: Genetics & Stem Cells Authors: Jian Sun, Shugen Li, Fei Wang, Caibin Fan and Jianqing Wang Tags: Research article Source Type: research
COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes
Poor joint flexibility has been repeatedly proposed as a risk factor for muscle injury. The C-to-T polymorphism (rs12722) in the 3 ′-untranslated region of the collagen type V α1 chain gene (COL5A1) is reportedly ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - December 2, 2019 Category: Genetics & Stem Cells Authors: Eri Miyamoto-Mikami, Naokazu Miyamoto, Hiroshi Kumagai, Kosuke Hirata, Naoki Kikuchi, Hirofumi Zempo, Noriko Kimura, Nobuhiro Kamiya, Hiroaki Kanehisa, Hisashi Naito and Noriyuki Fuku Tags: Research article Source Type: research
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up
Gorlin –Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carr... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 27, 2019 Category: Genetics & Stem Cells Authors: Jaehui Ryu, Jung Min Ko and Choong-Ho Shin Tags: Case report Source Type: research
