abstract：BACKGROUND: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 resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylch...

journal_title：BMC medical genetics

authors： Goubran M,Aderibigbe A,Jacquemin E,Guettier C,Girgis S,Bain V,Mason AL

更新日期：2020-11-30 00:00:00

abstract：BACKGROUND: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 the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...

journal_title：BMC medical genetics

authors： Zhang C,Deng X,Wen Y,He F,Yin F,Peng J

更新日期：2020-11-26 00:00:00

abstract：BACKGROUND: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, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes ...

journal_title：BMC medical genetics

authors： Rocca MS,Piatti G,Michelucci A,Guazzo R,Bertini V,Vinanzi C,Caligo MA,Valetto A,Foresta C

更新日期：2020-11-10 00:00:00

abstract：BACKGROUND: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 phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....

journal_title：BMC medical genetics

authors： Schultz-Rogers L,Muthusamy K,Pinto E Vairo F,Klee EW,Lanpher B

更新日期：2020-11-10 00:00:00

abstract：BACKGROUND: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. METHODS:we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. F...

journal_title：BMC medical genetics

authors： Xiang X,Yuan D,Kong P,Chen T,Yao H,Lin S,Zhang X,Cao H

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND:Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. METHODS:Literature-based data mining was conducted to identify genes, molecule, and cell processes linked to both hyperkalemia and ...

journal_title：BMC medical genetics

authors： Meng X,Lu H,Jiang X,Huang B,Wu S,Yu G,Cao H

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND: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 colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause ...

journal_title：BMC medical genetics

authors： Liu Q,Liu M,Liu T,Yu Y

更新日期：2020-10-08 00:00:00

abstract：BACKGROUND: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 low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...

journal_title：BMC medical genetics

authors： Radman M,Milicevic T

更新日期：2020-09-29 00:00:00

abstract：BACKGROUND: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 of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if ...

journal_title：BMC medical genetics

authors： Cerda-Flores RM,Camarillo-Cárdenas KP,Gutiérrez-Orozco G,Villarreal-Vela MP,Garza-Guajardo R,Ponce-Camacho MA,Castruita-Ávila AL,González-Guerrero JF,Rodríguez-Sánchez IP,Calderón-Garcidueñas AL,Rodríguez-Gutierrez HF,Arellano-Barr

更新日期：2020-09-25 00:00:00

abstract：BACKGROUND:Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymo...

journal_title：BMC medical genetics

authors： Lindholm H,Morrison I,Krettek A,Malm D,Novembre G,Handlin L

更新日期：2020-09-21 00:00:00

abstract：BACKGROUND:Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene. CASE PRESENTATION:Here, we investigate the...

journal_title：BMC medical genetics

authors： Jacob A,Pasquier J,Carapito R,Auradé F,Molitor A,Froguel P,Fakhro K,Halabi N,Viot G,Bahram S,Rafii A

更新日期：2020-09-17 00:00:00

abstract：BACKGROUND:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study wa...

journal_title：BMC medical genetics

authors： Zhu XC,Dai WZ,Ma T

更新日期：2020-09-12 00:00:00

abstract：BACKGROUND:Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) is a urinary macromolecule with a suggested critical role in modulating renal sto...

journal_title：BMC medical genetics

authors： Amar A,Afzal A,Hameed A,Ahmad M,Khan AR,Najma H,Abid A,Khaliq S

更新日期：2020-08-25 00:00:00

abstract：BACKGROUND:Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. CASE PRESENTATION:Here we report a Chinese neonate diagnosed with suspected PA based on the clinical symp...

journal_title：BMC medical genetics

authors： Wang HR,Liu YQ,He XL,Sun J,Zeng FW,Yan CB,Li H,Gao SY,Yang Y

更新日期：2020-08-20 00:00:00

abstract：BACKGROUND:Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all...

journal_title：BMC medical genetics

authors： Zhou Y,Tariq M,He S,Abdullah U,Zhang J,Baig SM

更新日期：2020-07-18 00:00:00

abstract：BACKGROUND:Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been prop...

journal_title：BMC medical genetics

authors： Hanaei S,Abdollahzade S,Sadr M,Mirbolouk MH,Fattahi E,Khoshnevisan A,Rezaei N

更新日期：2020-07-03 00:00:00

abstract：BACKGROUND:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehe...

journal_title：BMC medical genetics

authors： Sun S,Dong H,Yan T,Li J,Liu B,Shao P,Li J,Liang C

更新日期：2020-06-29 00:00:00

abstract：BACKGROUND:Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever, and long clubbed fi...

journal_title：BMC medical genetics

authors： Jia T,Zheng Y,Feng C,Yang T,Geng S

更新日期：2020-06-08 00:00:00

abstract：BACKGROUND:Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more...

journal_title：BMC medical genetics

authors： Yu W,Jin H,Deng J,Nan D,Huang Y

更新日期：2020-06-03 00:00:00

abstract：BACKGROUND:We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk NMIBC. Previously, the detection of four FGFR3 mutations (G372C, R248C, S249C and Y375C) require...

journal_title：BMC medical genetics

authors： Roperch JP,Hennion C

更新日期：2020-05-24 00:00:00

abstract：BACKGROUND: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 composition. It appears both in syndromic as well as non-syndromic forms. In the affected individual...

journal_title：BMC medical genetics

authors： Khan SA,Khan MA,Muhammad N,Bashir H,Khan N,Muhammad N,Yilmaz R,Khan S,Wasif N

更新日期：2020-05-07 00:00:00

abstract：BACKGROUND:Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION:The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were d...

journal_title：BMC medical genetics

authors： Sanchez-Lechuga B,Saqlain M,Ng N,Colclough K,Woods C,Byrne M

更新日期：2020-04-03 00:00:00

abstract：BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...

journal_title：BMC medical genetics

authors： Kume K,Morino H,Miyamoto R,Matsuda Y,Ohsawa R,Kanaya Y,Tada Y,Kurashige T,Kawakami H

更新日期：2020-03-31 00:00:00

abstract：BACKGROUND: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. METHODS:The expression of miRNA-210 was detected in liver tissues of HBV-associated cirrhosis and liver cancer, and in HepG2 and HepG2.2...

journal_title：BMC medical genetics

authors： Li X,Yuan M,Song L,Wang Y

更新日期：2020-03-06 00:00:00

abstract：BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was ...

journal_title：BMC medical genetics

authors： Venugopal P,Gagliardi L,Forsyth C,Feng J,Phillips K,Babic M,Poplawski NK,Rienhoff HY Jr,Schreiber AW,Hahn CN,Brown AL,Scott HS

更新日期：2020-02-17 00:00:00

abstract：BACKGROUND:Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior findings in non-obese preschool-aged Hispanic children identified 17 CpG dinucleotides for which di...

journal_title：BMC medical genetics

authors： Rushing A,Sommer EC,Zhao S,Po'e EK,Barkin SL

更新日期：2020-02-14 00:00:00

abstract：BACKGROUND:The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility. METHODS:Using appropriate keywords, we identified relevant studies using PubMed, Cochrane, Embase, CNKI, VAN...

journal_title：BMC medical genetics

authors： Huang R,Zhao SR,Li Y,Liu F,Gong Y,Xing J,Xu ZS

更新日期：2020-02-11 00:00:00

abstract：BACKGROUND:While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. METHODS:In this study, we report on clinica...

journal_title：BMC medical genetics

authors： Hadj Amor M,Dimassi S,Taj A,Slimani W,Hannachi H,Mlika A,Ben Helel K,Saad A,Mougou-Zerelli S

更新日期：2020-02-06 00:00:00

abstract：BACKGROUND:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...

journal_title：BMC medical genetics

authors： Gu J,Zeng J,Wang X,Gu X,Zhang X,Zhang P,Zhang F,Han Y,Han Y,Zhang H,Li W,Gu R

更新日期：2019-12-16 00:00:00

abstract：BACKGROUND:The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk. However, studies have largely been ambiguous. METHODS:Met...

journal_title：BMC medical genetics

authors： Hussain T,Naushad SM,Ahmed A,Alamery S,Mohammed AA,Abdelkader MO,Alkhrm NAN

更新日期：2019-12-10 00:00:00

abstract：BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

journal_title：BMC medical genetics

authors： Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

更新日期：2019-11-21 00:00:00

abstract：BACKGROUND:PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is responsible for the conv...

journal_title：BMC medical genetics

authors： Zhang Z,Huang TL,Ma J,He WJ,Gu H

更新日期：2019-11-14 00:00:00

abstract：BACKGROUND:Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. CASE PRESENTATION:The patient was a 2-year-old boy who underwent surgery in our hospital. The right han...

journal_title：BMC medical genetics

authors： Zou Q,Tian Z,Zheng J,Zhi X,Du X,Shu J,Cai C

更新日期：2019-11-09 00:00:00

abstract：BACKGROUND: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 reasons a large number of Iraqi patients present to Lebanon for medical care. This is the first repor...

journal_title：BMC medical genetics

authors： Farra C,Dagher C,Hamadeh L,El Saghir N,Mukherji D

更新日期：2019-09-05 00:00:00

abstract：BACKGROUND: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 previously observed. However, the impact of polymorphisms in DGCR8 which is indispensable in miRNA maturin...

journal_title：BMC medical genetics

authors： Huang X,Li Z,Lei J,Wang D,Zhang Y

更新日期：2019-09-04 00:00:00

abstract：BACKGROUND: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 type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC)...

journal_title：BMC medical genetics

authors： Sajjadi-Jazi SM,Soltani A,Enayati S,Kakavand Hamidi A,Amoli MM

更新日期：2019-08-16 00:00:00

abstract：BACKGROUND: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, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...

journal_title：BMC medical genetics

authors： Maskoen AM,Reniarti L,Sahiratmadja E,Sisca J,Effendi SH

更新日期：2019-08-09 00:00:00

abstract：BACKGROUND: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, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Rece...

journal_title：BMC medical genetics

authors： Aoyama KI,Kimura M,Yamazaki H,Uchibori M,Kojima R,Osawa Y,Hosomichi K,Ota Y,Tanaka M,Yamada S,Nishimura G

更新日期：2019-07-16 00:00:00

abstract：BACKGROUND: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 rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and iden...

journal_title：BMC medical genetics

authors： Li HY,Zhou T,Lin S,Lin W

更新日期：2019-06-25 00:00:00

abstract：BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

journal_title：BMC medical genetics

authors： Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

更新日期：2019-06-07 00:00:00