Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1
Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 18, 2019 Category: Genetics & Stem Cells Authors: Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan and Renbing Jia Tags: Research article Source Type: research

Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations in the Bruton tyrosine kinase (BTK) gene on X chromosome. These mutations disturb B-cell development, decrease... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 12, 2019 Category: Genetics & Stem Cells Authors: Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang and Wansheng Chen Tags: Case report Source Type: research

Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke
Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 11, 2019 Category: Genetics & Stem Cells Authors: Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang and Ming Zhang Tags: Research article Source Type: research

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
The objective of the present study was to examine clinical and m... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 11, 2019 Category: Genetics & Stem Cells Authors: Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kup Tags: Research article Source Type: research

Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report
Consanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive disorders. Thus, homozygous mutations in monogenic obesity genes may be ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul and Torben Hansen Tags: Research article Source Type: research

The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts
Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Dan Li, Qinghe Jing and Yongxiang Jiang Tags: Research article Source Type: research

BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center
Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reas... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir and Deborah Mukherji Tags: Research article Source Type: research

Genetic polymorphism in DGCR8 is associated with late onset of preeclampsia
PE (preeclampsia) is a heterogeneous disorder with early onset PE (EOPE) and late onset PE (LOPE) subtypes. Associations between maternal miRNAs biosynthesis genes polymorphisms and risk of PE have been previo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 4, 2019 Category: Genetics & Stem Cells Authors: Xin Huang, Zuodong Li, Jun Lei, Dapeng Wang and Yujing Zhang Tags: Research article Source Type: research

Association of CYP gene polymorphisms with breast cancer risk and prognostic factors in the Jordanian population
Single nucleotide polymorphisms (SNPs) in several CYP genes have been associated with altered breast cancer (BC) risk in different populations. Despite this, there is a dearth of information on the roles of th... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 2, 2019 Category: Genetics & Stem Cells Authors: Laith N. AL-Eitan, Doaa M. Rababa ’h, Mansour A. Alghamdi and Rame H. Khasawneh Tags: Research article Source Type: research

Genetic basis of rotator cuff injury: a systematic review
Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disea... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 2, 2019 Category: Genetics & Stem Cells Authors: Umile Giuseppe Longo, Vincenzo Candela, Alessandra Berton, Giuseppe Salvatore, Andrea Guarnieri, Joseph DeAngelis, Ara Nazarian and Vincenzo Denaro Tags: Research article Source Type: research

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort
Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to expl... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 2, 2019 Category: Genetics & Stem Cells Authors: Hosneara Akter, Nasima Sultana, Nazrana Martuza, Aaysha Siddiqua, Nushrat Jahan Dity, Md. Atikur Rahaman, Bisan Samara, Ahmed Sayeed, Mohammed Basiruzzaman, Mohammad Mizanur Rahman, Md. Rashidul Hoq, Md. Robed Amin, Md. Abdul Baqui, Marc Woodbury-Smith, K Tags: Research article Source Type: research

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrom... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 29, 2019 Category: Genetics & Stem Cells Authors: Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan and Hossein Fahimi Tags: Case report Source Type: research

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report
Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogen... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 27, 2019 Category: Genetics & Stem Cells Authors: Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang and Shiguo Liu Tags: Case report Source Type: research

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 g... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 23, 2019 Category: Genetics & Stem Cells Authors: Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka and Asma Gul Tags: Research article Source Type: research

MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia
Polycystic ovary syndrome (PCOS) is a common endocrine disorder causing infertility in reproductive-age women. The cause of PCOS is not fully understood but it is thought to be influenced by environmental and ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 20, 2019 Category: Genetics & Stem Cells Authors: Asma A. Batarfi, Najlaa Filimban, Osama S. Bajouh, Ashraf Dallol, Adeel G. Chaudhary and Sherin Bakhashab Tags: Research article Source Type: research

Genetic variation in interleukin-7 is associated with a reduced erythropoietic response in Kenyan children infected with Plasmodium falciparum
Severe malarial anemia (SMA) is a leading cause of malaria-related morbidity and mortality in children. The genetic factors that influence development of SMA and inefficient erythropoiesis, a central pathogeni... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 16, 2019 Category: Genetics & Stem Cells Authors: Lily E. Kisia, Prakasha Kempaiah, Samuel B. Anyona, Elly O. Munde, Angela O. Achieng, John M. Ong ’echa, Christophe G. Lambert, Kiprotich Chelimo, Collins Ouma, Douglas J. Perkins and Evans Raballah Tags: Research article Source Type: research

Association of hypoxia-inducible factor-1 α (HIF1α) 1790G/A gene polymorphism with renal cell carcinoma and prostate cancer susceptibility: a meta-analysis
This meta-analysis was performed to evaluate the relationship between hypoxia-inducible factor-1 α (HIF1α) 1790G/A gene polymorphism and the susceptibility to renal cell carcinoma (RCC) and prostate cancer (PCa). (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 16, 2019 Category: Genetics & Stem Cells Authors: Hong-Yan Li, Tianbiao Zhou, Wenshan Lin, Shujun Lin and Hongzhen Zhong Tags: Research article Source Type: research

Relationship between the rs2596542 polymorphism in the MICA gene promoter and HBV/HCV infection-induced hepatocellular carcinoma: a meta-analysis
Various studies have investigated the relationship between the polymorphism, rs2596542, in the promoter of the major histocompatibility complex class I-related gene A (MICA) gene with susceptibility to hepatitis ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 16, 2019 Category: Genetics & Stem Cells Authors: Xiaojun Luo, Yu Wang, Ai Shen, Hejun Deng and Min Ye Tags: Research article Source Type: research

Autoimmune Polyglandular Syndrome Type 1: a case report
Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome typ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 16, 2019 Category: Genetics & Stem Cells Authors: Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi and Mahsa M. Amoli Tags: Case report Source Type: research

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children, and there are no effective therapies for DMD or Becker Muscular Dystrophy (BMD). Currently, targeted gene therapy treatments hav... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 14, 2019 Category: Genetics & Stem Cells Authors: Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang and Lingrong Kong Tags: Research article Source Type: research

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report
Bartter syndrome (BS) is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the Henle loop, characterized by hypokalemia, salt loss, metabolic alkalosis, hyperreninemic hyp... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 13, 2019 Category: Genetics & Stem Cells Authors: Binlu Zhu, Hong Jiang, Meiling Cao, Xueqi Zhao and Hongkun Jiang Tags: Case report Source Type: research

Novel reference genes in colorectal cancer identify a distinct subset of high stage tumors and their associated histologically normal colonic tissues
Reference genes are often interchangeably called housekeeping genes due to 1) the essential cellular functions their proteins provide and 2) their constitutive expression across a range of normal and pathophys... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 13, 2019 Category: Genetics & Stem Cells Authors: Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof and Amy S. Rosenberg Tags: Research article Source Type: research

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia
Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nat... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 9, 2019 Category: Genetics & Stem Cells Authors: Ani Melani Maskoen, Lelani Reniarti, Edhyana Sahiratmadja, Joice Sisca and Sjarif Hidajat Effendi Tags: Research article Source Type: research

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 5, 2019 Category: Genetics & Stem Cells Authors: Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang and Ruen Yao Tags: Case report Source Type: research

Rapid detection of PAH gene mutations in Chinese people
Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosi... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 5, 2019 Category: Genetics & Stem Cells Authors: Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai and Ling-Li Wang Tags: Research article Source Type: research

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family
Proximal symphalangism (SYM1; OMIM 185800), also called Cushing ’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal join... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 1, 2019 Category: Genetics & Stem Cells Authors: Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu and Xiong Wang Tags: Research article Source Type: research

Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C   >  T p.(Leu75Phe) FOXL2 mutation: a case report
FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES ty... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 31, 2019 Category: Genetics & Stem Cells Authors: Barbara Grzechoci ńska, Damian Warzecha, Maria Wypchło, Rafal Ploski and Mirosław Wielgoś Tags: Case report Source Type: research

Characterization of the c.793-1G   >  A splicing variant in CHEK2 gene as pathogenic: a case report
CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant.... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 26, 2019 Category: Genetics & Stem Cells Authors: Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas Tags: Case report Source Type: research

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (O... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 25, 2019 Category: Genetics & Stem Cells Authors: Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu and Jing Wang Tags: Case report Source Type: research

Weak association between the interleukin-8 rs4073 polymorphism and acute pancreatitis: a cumulative meta-analysis
Several studies have been performed to investigate the associations between interleukin (IL)-8 rs4073 polymorphism and acute pancreatitis (AP), but the results are inconclusive. We conducted this cumulative me... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 24, 2019 Category: Genetics & Stem Cells Authors: Yening Li, Jing Bai, Bing He, Nan Wang, Haoran Wang and Dongliang Liu Tags: Research article Source Type: research

A multivariable approach for risk markers from pooled molecular data with only partial overlap
Increasingly, molecular measurements from multiple studies are pooled to identify risk scores, with only partial overlap of measurements available from different studies. Univariate analyses of such markers ha... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 19, 2019 Category: Genetics & Stem Cells Authors: Anne-Sophie Stelzer, Livia Maccioni, Aslihan Gerhold-Ay, Karin E. Smedby, Martin Schumacher, Alexandra Nieters and Harald Binder Tags: Technical advance Source Type: research

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
CHARGE syndrome (MIM# 214800) —which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growt... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 17, 2019 Category: Genetics & Stem Cells Authors: Evelina Siavrien ė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė Tags: Case report Source Type: research

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report
Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatologic... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 16, 2019 Category: Genetics & Stem Cells Authors: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada and Gen Nishimura Tags: Case report Source Type: research

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency
Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 15, 2019 Category: Genetics & Stem Cells Authors: Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack Jr, Joannah Kim and Christopher L. Sanders Tags: Research article Source Type: research

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two u... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 12, 2019 Category: Genetics & Stem Cells Authors: Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu and Li Sun Tags: Case report Source Type: research

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lys... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 11, 2019 Category: Genetics & Stem Cells Authors: Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov and Ekaterina Y. Zakharova Tags: Research article Source Type: research

A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report
Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 9, 2019 Category: Genetics & Stem Cells Authors: Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat and Nader Shakibazad Tags: Case report Source Type: research

Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
Diamond-Blackfan anemia (DBA), a congenital pure red cell aplasia (PRCA), is characterized by normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. DBA1... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 5, 2019 Category: Genetics & Stem Cells Authors: Xiaodong Shi, Xiaolan Huang, Yu Zhang and Xiaodai Cui Tags: Case report Source Type: research

Interaction between mitochondrial NADH dehydrogenase subunit-2 5178 C > A and clinical risk factors on the susceptibility of essential hypertension in Chinese population
The mitochondrial genotype 5178 cytosine/adenine (5178 C  > A) within the NADH dehydrogenase subunit-2 gene (ND2) was proved to associate with longevity and predispose resistance to adult-onset diseases. This s... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 5, 2019 Category: Genetics & Stem Cells Authors: Xi Chen, Xiang-Yu He, Chao Zhu, Yusong Zhang, Zongbin Li, Yuqi Liu, Yuxiao Zhang, Tong Yin and Yang Li Tags: Research article Source Type: research

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegi... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 4, 2019 Category: Genetics & Stem Cells Authors: Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega and Anas M. Alazami Tags: Case report Source Type: research

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead t... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 2, 2019 Category: Genetics & Stem Cells Authors: Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer and Andrew J. Griffith Tags: Research article Source Type: research

Overexpression of MicroRNA-148b-3p stimulates osteogenesis of human bone marrow-derived mesenchymal stem cells: the role of MicroRNA-148b-3p in osteogenesis
Mesenchymal stem cells (MSCs) are attractive choices in regenerative medicine and can be genetically modified to obtain better results in therapeutics. Bone development and metabolism are controlled by various... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 1, 2019 Category: Genetics & Stem Cells Authors: Samaneh Mollazadeh, Bibi Sedigheh Fazly Bazzaz, Vajiheh Neshati, Antoine A. F. de Vries, Hojjat Naderi-Meshkin, Majid Mojarad, Mahdi Mirahmadi, Zeinab Neshati and Mohammad Amin Kerachian Tags: Research article Source Type: research

Effect of prematurity on genome wide methylation in the placenta
Preterm birth is a significant clinical problem and an enormous burden on society, affecting one in eight pregnant women and their newborns. Despite decades of research, the molecular mechanism underlying its ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 28, 2019 Category: Genetics & Stem Cells Authors: Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori and James F. Padbury Tags: Research article Source Type: research

Rapid, low cost and sensitive detection of Calreticulin mutations by a PCR based amplicon length differentiation assay for diagnosis of myeloproliferative neoplasms
Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype. Our aim was to establish a rapid, lo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 27, 2019 Category: Genetics & Stem Cells Authors: Ngo Tat Trung, Dao Thanh Quyen, Nghiem Xuan Hoan, Dao Phuong Giang, Tran Thi Huyen Trang, Thirumalaisamy P. Velavan, Mai Hong Bang and Le Huu Song Tags: Research article Source Type: research

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan
Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-H... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 26, 2019 Category: Genetics & Stem Cells Authors: Lika ’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa and Yusuke Okuno Tags: Case report Source Type: research

Relationship between TGF- β1 + 869 T/C and + 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients
This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF- β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute reje... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 25, 2019 Category: Genetics & Stem Cells Authors: Hong-Yan Li, Tianbiao Zhou, Shujun Lin and Wenshan Lin Tags: Research article Source Type: research

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 24, 2019 Category: Genetics & Stem Cells Authors: A. Fern ández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez and M. L. Couce Tags: Case report Source Type: research

A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. The sit... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 19, 2019 Category: Genetics & Stem Cells Authors: Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li and Li Wang Tags: Research article Source Type: research

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review
Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene. Only a few Chinese... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 17, 2019 Category: Genetics & Stem Cells Authors: Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang and Qingliu Fu Tags: Case report Source Type: research

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplica... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 14, 2019 Category: Genetics & Stem Cells Authors: Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit and Vajira Harshadeva Weerabaddana Dissanayake Tags: Case report Source Type: research