No association of CDK5 genetic variants with Alzheimer's disease risk.

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

abstract：BACKGROUND:Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10...

journal_title：BMC medical genetics

authors： Alías L,Crespi J,González-Quereda L,Téllez J,Martínez E,Bernal S,Gallano MP

更新日期：2018-05-11 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:Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS:We performed high-density genomewide linkage analysis and mutation screening of candidate genes t...

journal_title：BMC medical genetics

authors： Boyden SE,Duncan AR,Estrella EA,Lidov HG,Mahoney LJ,Katz JS,Kunkel LM,Kang PB

更新日期：2011-06-28 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:The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a s...

journal_title：BMC medical genetics

authors： Shah SS,Macharia A,Makale J,Uyoga S,Kivinen K,Craik R,Hubbart C,Wellems TE,Rockett KA,Kwiatkowski DP,Williams TN

更新日期：2014-09-09 00:00:00

abstract：BACKGROUND:Kidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associ...

journal_title：BMC medical genetics

authors： Juhanson P,Kepp K,Org E,Veldre G,Kelgo P,Rosenberg M,Viigimaa M,Laan M

更新日期：2008-04-10 00:00:00

abstract：BACKGROUND:Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. ...

journal_title：BMC medical genetics

authors： Hu Q,Liu J,Wang Y,Wang J,Shi H,Sun Y,Wu X,Yang C,Teng J

更新日期：2017-12-15 00:00:00

abstract：BACKGROUND:Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22. Recent studies showed that a genetic variation within the interferon induced helicase ...

journal_title：BMC medical genetics

authors： Penna-Martinez M,Ramos-Lopez E,Robbers I,Kahles H,Hahner S,Willenberg H,Reisch N,Seidl C,Segni M,Badenhoop K

更新日期：2009-12-04 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:Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2 with mild DA. METHOD...

journal_title：BMC medical genetics

authors： Li S,You Y,Gao J,Mao B,Cao Y,Zhao X,Zhang X

更新日期：2018-10-03 00:00:00

abstract：BACKGROUND:I/D polymorphisms of ACE are associated with the plasma ACE concentration. The ACE is associated with the angiogenesis of ovarian endothelium in vitro as well as steroidogenesis and follicular growth in cattle. Since ACE induces a high blood supply and hypersteroidogenesis in the ovary, it may be associated ...

journal_title：BMC medical genetics

authors： Sun J,Fan H,Che Y,Cao Y,Wu X,Sun HX,Liang F,Yi L,Wang Y

更新日期：2009-07-14 00:00:00

abstract：BACKGROUND:Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has...

journal_title：BMC medical genetics

authors： Cho KH,Shim SH,Jung Y,Sung SR,Kim M

更新日期：2018-08-29 00:00:00

abstract：BACKGROUND:Observational studies and randomized trials have suggested that estrogens and/or progesterone may lower the risk for colorectal cancer. Inherited variation in the sex-hormone genes may be one mechanism by which sex hormones affect colorectal cancer, although data are limited. METHOD:We conducted a comprehen...

journal_title：BMC medical genetics

authors： Lin JH,Manson JE,Kraft P,Cochrane BB,Gunter MJ,Chlebowski RT,Zhang SM

更新日期：2011-05-31 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:Despite the important role of the nerve growth factor in the survival and maintenance of neurons in ischemic stroke, data regarding the relationships between variations in the encoding gene and stroke are lacking. In the present study, we evaluated the association of the functional polymorphisms in NGF (rs63...

journal_title：BMC medical genetics

authors： Stepanyan A,Zakharyan R,Simonyan A,Tsakanova G,Arakelyan A

更新日期：2018-03-02 00:00:00

abstract：BACKGROUND:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...

journal_title：BMC medical genetics

authors： McGorrian C,McShane C,McQuade C,Keelan T,Neill JO,Galvin J,Malone K,Mahon NG,Codd M

更新日期：2013-01-08 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:CALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of osteoarthritis (OA). Using a convincing genome-wide association study, a Japanese group has recently d...

journal_title：BMC medical genetics

authors： Shi D,Ni H,Dai J,Qin J,Xu Y,Zhu L,Yao C,Shao Z,Chen D,Xu Z,Yi L,Ikegawa S,Jiang Q

更新日期：2008-10-22 00:00:00

abstract：BACKGROUND:Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of th...

journal_title：BMC medical genetics

authors： Baasanjav S,Jamsheer A,Kolanczyk M,Horn D,Latos T,Hoffmann K,Latos-Bielenska A,Mundlos S

更新日期：2010-07-09 00:00:00

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:This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS:We carried out a case-control study of 415 patients with SLE and 470 h...

journal_title：BMC medical genetics

authors： Cai X,Huang W,Liu X,Wang L,Jiang Y

更新日期：2017-04-20 00:00:00

abstract：BACKGROUND:Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene, with obesity and estimated the influence of these polymorphisms on anthropometric, clinical and ...

journal_title：BMC medical genetics

authors： Olza J,Ruperez AI,Gil-Campos M,Leis R,Fernandez-Orth D,Tojo R,Cañete R,Gil A,Aguilera CM

更新日期：2013-12-01 00:00:00

abstract：BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...

journal_title：BMC medical genetics

authors： Gamundi MJ,Hernan I,Martínez-Gimeno M,Maseras M,García-Sandoval B,Ayuso C,Antiñolo G,Baiget M,Carballo M

更新日期：2006-04-05 00:00:00

abstract：BACKGROUND:Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unk...

journal_title：BMC medical genetics

authors： Xu D,Sun C,Zhou Z,Wu B,Yang L,Chang Z,Zhang M,Xi L,Cheng R,Ni J,Luo F

更新日期：2018-05-16 00:00:00

abstract：BACKGROUND:Risk gene variants for celiac disease, identified in genome-wide linkage and association studies, might influence molecular pathways important for disease development. The aim was to examine expression levels of potential risk genes close to these variants in the small intestine and peripheral blood and also...

journal_title：BMC medical genetics

authors： Montén C,Gudjonsdottir AH,Browaldh L,Arnell H,Nilsson S,Agardh D,Naluai ÅT

更新日期：2015-06-30 00:00:00

abstract：BACKGROUND:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and mol...

journal_title：BMC medical genetics

authors： López M,García-Oguiza A,Armstrong J,García-Cobaleda I,García-Miñaur S,Santos-Simarro F,Seidel V,Domínguez-Garrido E

更新日期：2018-03-05 00:00:00

abstract：BACKGROUND:Tendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor being essential for Treg function, and the FC-receptor-like 3 (FCRL3) possibly negatively regulatin...

journal_title：BMC medical genetics

authors： Salles JI,Lopes LR,Duarte MEL,Morrissey D,Martins MB,Machado DE,Guimarães JAM,Perini JA

更新日期：2018-07-18 00:00:00

abstract：BACKGROUND:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...

journal_title：BMC medical genetics

authors： Mégarbané A,Al-Ali R,Choucair N,Lek M,Wang E,Ladjimi M,Rose CM,Hobeika R,Macary Y,Temanni R,Jithesh PV,Chouchane A,Sastry KS,Thomas R,Tomei S,Liu W,Marincola FM,MacArthur D,Chouchane L

更新日期：2016-06-10 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