A novel variant of IHH in a Chinese family with brachydactyly type 1
Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 24, 2020 Category: Genetics & Stem Cells Authors: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li and Yiping Shen Tags: Research article Source Type: research
Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report
Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 20, 2020 Category: Genetics & Stem Cells Authors: Ling Hou and Yue Du Tags: Case report Source Type: research
Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
Following publication of the original article [1], the authors flagged that the name of ‘Asal Hojjat’ was misspelled; the name had been spelled as ‘Asal Hojat’. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 20, 2020 Category: Genetics & Stem Cells Authors: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh and Mohammad Reza Noori-Daloii Tags: Correction Source Type: research
Glutathione S-transferase M1 and T1 genes deletion polymorphisms and risk of developing essential hypertension: a case-control study in Burkina Faso population (West Africa)
Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of several risks factors that may be associated with many types of disease processes such ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 19, 2020 Category: Genetics & Stem Cells Authors: Herman Karim Sombi é, Abel Pegdwendé Sorgho, Jonas Koudougou Kologo, Abdoul Karim Ouattara, Sakinata Yaméogo, Albert Théophane Yonli, Florencia Wendkuuni Djigma, Daméhan Tchelougou, Dogfounianalo Somda, Isabelle Touwendpoulimdé Kiendrébéogo, Prosp Tags: Research article Source Type: research
An eight-mRNA signature outperforms the lncRNA-based signature in predicting prognosis of patients with glioblastoma
This study aims to select an optimal RNA signature for prognostic prediction of GBM patients. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 19, 2020 Category: Genetics & Stem Cells Authors: Zhenyu Gong, Fan Hong, Hongxiang Wang, Xu Zhang and Juxiang Chen Tags: Research article Source Type: research
ABCG2 rs2231142 variant in hyperuricemia is modified by SLC2A9 and SLC22A12 polymorphisms and cardiovascular risk factors in an elderly community-dwelling population
The ABCG2 rs2231142 single nucleotide polymorphism (SNP) is one of the most significant genetic variants associated with hyperuricemia (HUA) in Asian populations. However, the risk of ABCG2 rs2231142 variants for... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 17, 2020 Category: Genetics & Stem Cells Authors: Jia Liu, Wei Yang, Yun Li, Zhanyun Wei and Xiaojuan Dan Tags: Research article Source Type: research
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report
The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal r... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 14, 2020 Category: Genetics & Stem Cells Authors: Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang and Hai-Feng Li Tags: Case report Source Type: research
Birt-Hogg-Dub é syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature
Birt-Hogg-Dub é syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal t... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 14, 2020 Category: Genetics & Stem Cells Authors: Fl ávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco and Jaques Waisberg Tags: Case report Source Type: research
SLC1A3 C3590T but not BDNF G196A is a predisposition factor for stress as well as depression, in an adolescent eastern Indian population
Adolescence is a distinctive stage of various changes and is noted as peak age for onset of many psychiatric disorders, especially linked to stress and depression. Several genetic variations are being increasi... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 14, 2020 Category: Genetics & Stem Cells Authors: Madhumita Ghosh, Akhtar Ali, Shobhna Joshi, Adya Shankar Srivastava and Madhu G. Tapadia Tags: Research article Source Type: research
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies P... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 12, 2020 Category: Genetics & Stem Cells Authors: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque and Swathi Shetty Tags: Research article Source Type: research
Silencing of microRNA-210 inhibits the progression of liver cancer and hepatitis B virus-associated liver cancer via targeting EGR3
This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 6, 2020 Category: Genetics & Stem Cells Authors: Xiaojie Li, Mei Yuan, Lu Song and Yan Wang Tags: Research article Source Type: research
A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing
This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many si... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 6, 2020 Category: Genetics & Stem Cells Authors: Lin Zhang, Zheng Cao, Fan Feng, Ya-Nan Xu, Lin Li and Hong Gao Tags: Research article Source Type: research
Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report
Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromusc... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 4, 2020 Category: Genetics & Stem Cells Authors: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime and Ahmed Bouhouche Tags: Case report Source Type: research
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 2, 2020 Category: Genetics & Stem Cells Authors: Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader and Alma Osmanovic Tags: Research article Source Type: research
Identification of differentially expressed miRNAs and mRNAs in synovial of osteoarthritis via RNA-sequencing
This study attempted to investigate the key mRNAs and miRNAs related to OA. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 2, 2020 Category: Genetics & Stem Cells Authors: Yu Zhou, Zhicong Wang, Xi Chen, Jianjun Zhang, Ling Yang, Shuping Liu and Yuehong Liu Tags: Research article Source Type: research
