A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired res... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 17, 2020 Category: Genetics & Stem Cells Authors: Yongqing Tong, Bei Liu, Hongyun Zheng, Anyu Bao, Zegang Wu, Jian Gu, Bi-Hua Tan, Mary McGrath, Shriya Kane, Chunhua Song and Yan Li Tags: Research article Source Type: research
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report
Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 16, 2020 Category: Genetics & Stem Cells Authors: Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang and Yuanyuan Zhu Tags: Case report Source Type: research
Association of MUC1 5640G > A and PSCA 5057C > T polymorphisms with the risk of gastric cancer in Northern Iran
Gastric cancer is one of the four most common cancer that causing death worldwide. Genome-Wide Association Studies (GWAS) have shown that genetic diversities MUC1 (Mucin 1) and PSCA (Prostate Stem Cell Antigen) g... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 13, 2020 Category: Genetics & Stem Cells Authors: Reza Alikhani, Ali Taravati and Mohammad Bagher Hashemi-Soteh Tags: Research article Source Type: research
Copy number variation of IL17RA gene and its association with the ankylosing spondylitis risk in Iranian patients: a case-control study
Ankylosing spondylitis (AS) is considered as a subtype of spondyloarthritis (SpA) that mainly leads to fatigue, stiffness, spinal ankylosis, and impaired physical functions with reduced quality of life. Interl... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 10, 2020 Category: Genetics & Stem Cells Authors: Hamideh Aghaei, Elham Farhadi, Maryam Akhtari, Sara Shahba, Shayan Mostafaei, Ahmadreza Jamshidi, Shiva Poursani, Mahdi Mahmoudi and Mohammad Hossein Nicknam Tags: Research article Source Type: research
APOE – a genetic marker of comorbidity in subjects with morbid obesity
This study explored associations between ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 9, 2020 Category: Genetics & Stem Cells Authors: Per G. Farup, Helge Rootwelt and Knut Hestad Tags: Research article Source Type: research
Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin
Glaucoma is a polygenic neurodegenerative disease and the second most common cause of blindness in Saudi Arabia. To test the hypothesis that genetic variants in the genes involved in the bone morphogenic prote... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 8, 2020 Category: Genetics & Stem Cells Authors: Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Essam A. Osman, Faisal A. Almobarak and Saleh A. Al-Obeidan Tags: Research article Source Type: research
Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 6, 2020 Category: Genetics & Stem Cells Authors: Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang and Dao Wu Wang Tags: Case report Source Type: research
Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis
Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our stud... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 3, 2020 Category: Genetics & Stem Cells Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L. Holl, Robert Murphy & he Tags: Research article Source Type: research
Association of interleukin 2, interleukin 12, and interferon- γ with intervertebral disc degeneration in Iranian population
Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore,... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 3, 2020 Category: Genetics & Stem Cells Authors: Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Ehsan Fattahi, Alireza Khoshnevisan and Nima Rezaei Tags: Research article Source Type: research
A case of Turcot ’s syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report
Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding re... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 1, 2020 Category: Genetics & Stem Cells Authors: Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota & hellip; Tags: Case report Source Type: research
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, cra... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 30, 2020 Category: Genetics & Stem Cells Authors: Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein and Nima Rezaei Tags: Case report Source Type: research
A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report
Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, th... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 29, 2020 Category: Genetics & Stem Cells Authors: Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh and Majid Yavarian Tags: Case report Source Type: research
Role of TSP-1 as prognostic marker in various cancers: a systematic review and meta-analysis
Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 29, 2020 Category: Genetics & Stem Cells Authors: Shengjie Sun, Huiyu Dong, Tao Yan, Junchen Li, Bianjiang Liu, Pengfei Shao, Jie Li and Chao Liang Tags: Research article Source Type: research
First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 26, 2020 Category: Genetics & Stem Cells Authors: Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, No émie Jourde-Chiche and Mickaël Bobot Tags: Case report Source Type: research
KIAA1109 gene mutation in surviving patients with Alkuraya-Ku činskas syndrome: a review of literature
Alkuraya-Ku činskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental del... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 26, 2020 Category: Genetics & Stem Cells Authors: Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji and Babylakshmi Muthusamy Tags: Research article Source Type: research
