Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report
Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15 –20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. Howe... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 12, 2020 Category: Genetics & Stem Cells Authors: Yoon-Seob Kim, Sun Shin, Seung-Hyun Jung and Yeun-Jun Chung Tags: Case report Source Type: research
Influence of MIF polymorphisms on CpG island hyper-methylation of CDKN2A in the patients with ulcerative colitis
CDKN2A hypermethylation is among the major events associated with carcinogenesis and is also observed in non-neoplastic colonic mucosa in patients with ulcerative colitis (UC). Macrophage migration inhibitory fac... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 12, 2020 Category: Genetics & Stem Cells Authors: Naoko Sakurai, Tomoyuki Shibata, Masakatsu Nakamura, Hikaru Takano, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Ostuka, Tomomitsu Tahara and Tomiyasu Arisawa Tags: Research article Source Type: research
KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas
Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms ̕ tumor in children... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 12, 2020 Category: Genetics & Stem Cells Authors: Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan and Michael R. Pins Tags: Research article Source Type: research
Frequency of thrombophilia associated genes variants: population-based study
Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may le... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 9, 2020 Category: Genetics & Stem Cells Authors: Natalia Wawrusiewicz-Kurylonek, Adam Jacek Kr ętowski and Renata Posmyk Tags: Research article Source Type: research
The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Chinese Han population: a case-control study
This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 9, 2020 Category: Genetics & Stem Cells Authors: Hui Yang, Xindie Zhou, Dongmei Xu and Gang Chen Tags: Research article Source Type: research
Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 8, 2020 Category: Genetics & Stem Cells Authors: Qing Liu, Mengling Liu, Tianshu Liu and Yiyi Yu Tags: Case report Source Type: research
Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderat... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 2, 2020 Category: Genetics & Stem Cells Authors: Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang and Xiang Liu Tags: Case report Source Type: research
Altered expression of the DISC1 gene in peripheral blood of patients with schizophrenia
Schizophrenia is a severe, heritable, and refractory psychiatric disorder. Several studies have shown that the disrupted in schizophrenia 1 (DISC1) gene is closely associated with schizophrenia by its role in neu... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 2, 2020 Category: Genetics & Stem Cells Authors: Xiaoqian Fu, Guofu Zhang, Yansong Liu, Ling Zhang, Fuquan Zhang and Conghua Zhou Tags: Research article Source Type: research
Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome
Alagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent adv... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 2, 2020 Category: Genetics & Stem Cells Authors: Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski and Stanislaw Niemczyk Tags: Case report Source Type: research
Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel –Lindau disease: case report
Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel –Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 1, 2020 Category: Genetics & Stem Cells Authors: Zhen Liu, Jingcheng Zhou, Liang Li, Zhiqiang Yi, Runchun Lu, Chunwei Li and Kan Gong Tags: Case report Source Type: research
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome
Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 1, 2020 Category: Genetics & Stem Cells Authors: Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu and Xu Ma Tags: Case report Source Type: research
Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report
Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 29, 2020 Category: Genetics & Stem Cells Authors: Adrian Giuc ă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu and Ruxandra Jurcuţ Tags: Case report Source Type: research
Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-sha... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 29, 2020 Category: Genetics & Stem Cells Authors: Katina Kartalias, Austin P. Gillies, Maria T. Pe ña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira and Laura L. Tosi Tags: Case report Source Type: research
A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma – a case report
Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 29, 2020 Category: Genetics & Stem Cells Authors: Maja Radman and Tanja Milicevic Tags: Case report Source Type: research
ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women
Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 25, 2020 Category: Genetics & Stem Cells Authors: Ricardo M. Cerda-Flores, Karen Paola Camarillo-C árdenas, Gabriela Gutiérrez-Orozco, Mónica Patricia Villarreal-Vela, Raquel Garza-Guajardo, Marco Antonio Ponce-Camacho, Ana Lilia Castruita-Ávila, Juan Francisco González-Guerrero, Iram Pablo Rodrígu Tags: Research article Source Type: research
