Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15  years after liver transplantation
Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug res... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 30, 2020 Category: Genetics & Stem Cells Authors: Mariam Goubran, Ayodeji Aderibigbe, Emmanuel Jacquemin, Catherine Guettier, Safwat Girgis, Vincent Bain and Andrew L. Mason Tags: Case report Source Type: research

First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin and Jing Peng Tags: Case report Source Type: research

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel and Carina Kelbsch Tags: Case report Source Type: research

Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype
Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microsco... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: R üdiger Schultz, Varpu Elenius, Heikki Lukkarinen and Tanja Saarela Tags: Research article Source Type: research

Mice lacking global Stap1 expression do not manifest hypercholesterolemia
Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identi... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Babunageswararao Kanuri, Vincent Fong, April Haller, David Y. Hui and Shailendra B. Patel Tags: Research article Source Type: research

Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan
Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~  8000 children worldwide are diagnosed for retinoblastoma. In high-income count... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Zhen Zhang, Yi-shuang Xiao, Ru Shen, Hong-chao Jiang, Li Tan, Ren-qiu Li, Xiao-hong Yang, Huai-yu Gu, Wen-Ji He and Jing Ma Tags: Research article Source Type: research

Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection
Genetic factors may influence the susceptibility to high-risk (hr) human papillomavirus (HPV) infection and persistence. We conducted the first genome-wide association study (GWAS) to identify variants associa... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Sally N. Adebamowo, Adebowale A. Adeyemo, Charles N. Rotimi, Olayinka Olaniyan, Richard Offiong and Clement A. Adebamowo Tags: Research article Source Type: research

Interleukin-4 gene polymorphism (C33T) and the risk of the asthma: a meta-analysis based on 24 publications
Previous studies evaluated the association of IL-4 C33T polymorphism and risk of bronchial asthma but failed to establish a consistent conclusive association. In the present meta-analysis, we intend to define ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Danyal Imani, Mohammad Masoud Eslami, Gholamreza Anani-Sarab, Mansur Aliyu, Bahman Razi and Ramazan Rezaei Tags: Research article Source Type: research

Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre
Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Paula Sienes Bailo, Raquel Lahoz, Juan Pelegr ín Sánchez Marín and Silvia Izquierdo Álvarez Tags: Research article Source Type: research

Characterization of an N-terminal Nav1.5 channel variant – a potential risk factor for arrhythmias and sudden death?
Alterations in the SCN5A gene encoding the cardiac sodium channel Nav1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative ca... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 19, 2020 Category: Genetics & Stem Cells Authors: Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel and Silke Kauferstein Tags: Research article Source Type: research

Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk
Though bladder cancer has been the subject of many well-powered genome-wide association studies, the mechanisms involving bladder-cancer-associated single nucleotide polymorphisms (SNPs) remain largely unknown... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 19, 2020 Category: Genetics & Stem Cells Authors: Kristina M. Jordahl, Amanda I. Phipps, Timothy W. Randolph, Lesley F. Tinker, Rami Nassir, Lifang Hou, Garnet L. Anderson, Karl T. Kelsey, Emily White and Parveen Bhatti Tags: Research article Source Type: research

Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report
Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We repo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 19, 2020 Category: Genetics & Stem Cells Authors: Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti and Alberto Berardi Tags: Case report Source Type: research

Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster
Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C  > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. C... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 18, 2020 Category: Genetics & Stem Cells Authors: Giovanni Brandi, Alessandro Rizzo, Marzia Deserti, Valeria Relli, Valentina Indio, Sofia Bin, Milena Pariali, Andrea Palloni, Stefania De Lorenzo, Francesco Tovoli and Simona Tavolari Tags: Research article Source Type: research

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees
Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 18, 2020 Category: Genetics & Stem Cells Authors: Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian and Samira Asgharzade Tags: Research article Source Type: research

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usua... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 16, 2020 Category: Genetics & Stem Cells Authors: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan and Tao Bo Tags: Case report Source Type: research

Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report
Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral b... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 13, 2020 Category: Genetics & Stem Cells Authors: Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao and Ming Sang Tags: Case report Source Type: research

Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report
Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient c... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 11, 2020 Category: Genetics & Stem Cells Authors: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu and Zhichun Feng Tags: Case report Source Type: research

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene —a case report
Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually prese... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 10, 2020 Category: Genetics & Stem Cells Authors: Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang and Wenzhe Zhou Tags: Case report Source Type: research

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenoty... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 10, 2020 Category: Genetics & Stem Cells Authors: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee and Brendan Lanpher Tags: Case report Source Type: research

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinic... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 10, 2020 Category: Genetics & Stem Cells Authors: Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto and Carlo Foresta Tags: Case report Source Type: research

The role of UGT1A1 (c.-3279  T  >  G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility
Neonatal hyperbilirubinemia (NNH) is a common disease in newborns. This research study aimed to assess the associations between uridine diphospho-glucuronate-glucuronosyltransferase 1A1 (UGT1A1, c.-3279  T > G)... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 6, 2020 Category: Genetics & Stem Cells Authors: Zijin Li, Li Song and Lihong Hao Tags: Research article Source Type: research

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report
Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs furthe... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 5, 2020 Category: Genetics & Stem Cells Authors: Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian and Wen-Xiong Chen Tags: Case report Source Type: research

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study
To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 2, 2020 Category: Genetics & Stem Cells Authors: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral and Ishwar C. Verma Tags: Research article Source Type: research

Novel variants of ABCA4 in Han Chinese families with Stargardt disease
Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 31, 2020 Category: Genetics & Stem Cells Authors: Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang and Ji-Hong Wu Tags: Research article Source Type: research

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 31, 2020 Category: Genetics & Stem Cells Authors: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing and Weibo Xia Tags: Case report Source Type: research

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature
SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 31, 2020 Category: Genetics & Stem Cells Authors: Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang and Xiumin Wang Tags: Case report Source Type: research

Genetic polymorphisms of PGF and TNFAIP2 genes related to cervical cancer risk among Uygur females from China
PGF and TNFAIP2 are important angiogenic factors, which were abnormal expression in cervical cancer (CC). However, there is currently no report investigating the relationship of PGF and TNFAIP2 gene polymorphisms... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 27, 2020 Category: Genetics & Stem Cells Authors: Zumurelaiti Ainiwaer, Reyilanmu Maisaidi, Jing Liu, Lili Han, Sulaiya Husaiyin, Jing Lu and Mayinuer Niyazi Tags: Research article Source Type: research

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagno... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev and Rena A. Zinchenko Tags: Case Report Source Type: research

Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients
Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang and Hongbao Cao Tags: Research Source Type: research

Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas
Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu and Hongbao Cao Tags: Research Source Type: research

Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences
(Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Ancha V. Baranova, Elena Yu. Leberfarb, Georgy S. Lebedev and Yuriy L. Orlov Tags: Introduction Source Type: research

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen dise... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali and Mikhail Skoblov Tags: Case Report Source Type: research

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report
Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritanc... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il ’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Pl Tags: Case report Source Type: research

The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis
Replication studies showed conflicting effects of ABCG2 and SLC2A9 polymorphisms on gout and serum urate. This meta-analysis therefore aimed to pool their effects across studies. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Thitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, Naravut Suvannang, Atiporn Ingsathit, John Attia and Ammarin Thakkinstian Tags: Research article Source Type: research

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report
Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1 –0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this s... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao and Yuan Gao Tags: Case report Source Type: research

Development of an immunogenomic landscape for the competing endogenous RNAs network of peri-implantitis
Peri-implantitis is an inflammation that occurs around the implant, resulting in varying degrees of inflammatory damage to the soft and hard tissues. The characteristic criterion is the loss of the supporting ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 20, 2020 Category: Genetics & Stem Cells Authors: Yang Li, Jina Zheng, Chanjuan Gong, Kengfu Lan, Yuqing Shen and Xiaojun Ding Tags: Research article Source Type: research

p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies
The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable in populations. However, the use ofstrategies such aspoolingage-matched controls with disease may p... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 19, 2020 Category: Genetics & Stem Cells Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Jun Wang, Erin Neuschler, Oumar Kassogue, Mamadou L Keita, Cheick B Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Robert L Murphy, Seydou Doumbia, Lifang Hou and Mamoudou Maiga Tags: Research article Source Type: research

Investigation of INDEL variants in apoptosis: the relevance to gastric cancer
Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. G... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 19, 2020 Category: Genetics & Stem Cells Authors: Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Ant ônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos and Ândrea Ribeiro-dos-Santos Tags: Research article Source Type: research

Effect of DNMT3A polymorphisms on CpG island hypermethylation in gastric mucosa
CpG methylation of tumor suppressor genes occurs in the early stage of carcinogenesis. Detecting risk factors for aberrant CpG methylation is clinically important for predicting cancer development. DNA methylt... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 16, 2020 Category: Genetics & Stem Cells Authors: Hikaru Takano, Tomoyuki Shibata, Masakatsu Nakamura, Naoko Sakurai, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Otsuka, Tomomitsu Tahara and Tomiyasu Arisawa Tags: Research article Source Type: research

Genotype-phenotype correlation of HbH disease in northern Iraq
HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genoty... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 15, 2020 Category: Genetics & Stem Cells Authors: Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus and Mohamad D. Ali Tags: Research article Source Type: research

Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn ’s disease subjects
Genetic analyses have identified many variants associated with the risk of inflammatory bowel disease (IBD) development. Among these variants, the ones located within the NOD2 gene have the highest odds ratio of ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 15, 2020 Category: Genetics & Stem Cells Authors: Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S. Silverberg, Michelle I. Smith, Juan Antonio Raygoza Garay, Sun-Ho Lee, David S. Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary A. Steinhart, Guy Aumais, Le Tags: Research article Source Type: research

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