TNF- α − 308 G/A and IFN-γ + 874 A/T gene polymorphisms in Saudi patients with cutaneous leishmaniasis
This study was undertaken to test the association of TNF- α − 308 and IFN-γ + 874 gene polymorphisms with the susceptibility of Leishmania (L... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 13, 2020 Category: Genetics & Stem Cells Authors: Ahmed A. Ahmed, Zafar Rasheed, Tarek Salem, Mohammed S. Al-Dhubaibi, Ahmad A. Al Robaee and Abdullateef A. Alzolibani Tags: Research article Source Type: research
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups
Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a dermatologic and rheumatologic spectrum that are variable in ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 12, 2020 Category: Genetics & Stem Cells Authors: Gunter Assmann, Michaela K öhm, Volker Schuster, Frank Behrens, Rotraut Mössner, Nina Magnolo, Vinzenz Oji, Harald Burkhardt and Ulrike Hüffmeier Tags: Research article Source Type: research
Association of rs610604 in TNFAIP3 and rs17728338 in TNIP1 gene polymorphisms with psoriasis susceptibility: a meta-analysis of case-control studies
To date, the fundamental pathophysiology underlying the occurrence and progression of psoriasis are still unanswered questions. Genome-wide association surveys have revealed that TNFAIP3 and TNIP1 were key bio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 12, 2020 Category: Genetics & Stem Cells Authors: Hai-bo Gong, Shu-tao Gao, Xiong-ming Pu, Xiao-jing Kang and Xiu-juan Wu Tags: Research article Source Type: research
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family
Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to m... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 11, 2020 Category: Genetics & Stem Cells Authors: Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu and Wenjun Wang Tags: Case report Source Type: research
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 11, 2020 Category: Genetics & Stem Cells Authors: Yi Gu, Bingwu Xiang, Lina Zhu, Xiuwei Ma, Xiang Chen and Tao Cai Tags: Research article Source Type: research
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and moto... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 11, 2020 Category: Genetics & Stem Cells Authors: Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang and Yiping Shen Tags: Case report Source Type: research
Recurrent secondary genomic alterations in desmoplastic small round cell tumors
Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive, translocation-associated soft-tissue sarcoma that primarily affects children, adolescents, and young adults, with a striking male predo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 11, 2020 Category: Genetics & Stem Cells Authors: Warren A. Chow, Jiing-Kuan Yee, Walter Tsark, Xiwei Wu, Hanjun Qin, Min Guan, Jeffrey S. Ross, Siraj M. Ali and Sherri Z. Millis Tags: Research article Source Type: research
Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients
Conotruncal heart defects (CTDs) are a group of congenital heart malformations that cause anomalies of cardiac outflow tracts. In the past few decades, many genes related to CTDs have been reported. Serum resp... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Xu Mengmeng, Xu Yuejuan, Chen Sun, Lu Yanan, Li Fen and Sun Kun Tags: Research article Source Type: research
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing f... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Dulika Sumathipala, Petter Str ømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo and Eirik Frengen Tags: Case report Source Type: research
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family
Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, R üstem Yilmaz, Saadullah Khan and Naveed Wasif Tags: Research article Source Type: research
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion
Renal hypouricemia (RHUC) is a hereditary disorder where mutations in SLC22A12 gene and SLC2A9 gene cause RHUC type 1 (RHUC1) and RHUC type 2 (RHUC2), respectively. These genes regulate renal tubular reabsorption... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 6, 2020 Category: Genetics & Stem Cells Authors: Motohiro Sekiya, Takaaki Matsuda, Yuki Yamamoto, Yasuhisa Furuta, Mariko Ohyama, Yuki Murayama, Yoko Sugano, Yoshinori Ohsaki, Hitoshi Iwasaki, Naoya Yahagi, Shigeru Yatoh, Hiroaki Suzuki and Hitoshi Shimano Tags: Case report Source Type: research
Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer
Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existen... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 6, 2020 Category: Genetics & Stem Cells Authors: Anna Bobyn, Mehdi Zarrei, Yuankun Zhu, Mary Hoffman, Darren Brenner, Adam C. Resnick, Stephen W. Scherer and Marco Gallo Tags: Research article Source Type: research
Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia
Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 6, 2020 Category: Genetics & Stem Cells Authors: Haiming Yuan, Qingming Wang, Yufeng Li, Shuangxi Cheng, Jianxin Liu and Yanhui Liu Tags: Case report Source Type: research
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management
Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 6, 2020 Category: Genetics & Stem Cells Authors: L. Ordieres-Ortega, F. Galeano-Valle, M. Mall én-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther and P. Demelo-Rodríguez Tags: Case report Source Type: research
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathoge... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 5, 2020 Category: Genetics & Stem Cells Authors: Izabella K örberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby and Eva-Lena Stattin Tags: Case report Source Type: research
