Allelic association of the human homologue of the mouse modifier Ptprj with breast cancer.

abstract：:Type V collagen is a constituent of type I collagen-rich fibrils in many connective tissues and is a regulator of fibril diameter. In tissues, type V collagen is a heterotrimer with the molecular structure: alpha 1(V)2 alpha 2(V) or alpha 1(V) alpha 2(V) alpha 3(V). We report that genomic polymorphisms at the pro alph...

journal_title：Human molecular genetics

authors： Wenstrup RJ,Langland GT,Willing MC,D'Souza VN,Cole WG

更新日期：1996-11-01 00:00:00

abstract：:We describe a new Type II congenital disorder of glycosylation (CDG-II) caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8. The patient has severe psychomotor retardation, seizures, failure to thrive and intolerance to wheat and dairy products. Analysis of serum transferrin and total serum ...

journal_title：Human molecular genetics

authors： Kranz C,Ng BG,Sun L,Sharma V,Eklund EA,Miura Y,Ungar D,Lupashin V,Winkel RD,Cipollo JF,Costello CE,Loh E,Hong W,Freeze HH

更新日期：2007-04-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel...

journal_title：Human molecular genetics

authors： Parnell SC,Magenheimer BS,Maser RL,Pavlov TS,Havens MA,Hastings ML,Jackson SF,Ward CJ,Peterson KR,Staruschenko A,Calvet JP

更新日期：2018-10-01 00:00:00

abstract：:Wolfram syndrome (WS) is a heterogeneous multisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype known as WS type 2. The wide phenotypic spectrum of WS includes diabetes mellitus and optic atrophy which is often accompanied by diabetes insipidus, deafness, urological and ne...

journal_title：Human molecular genetics

authors： Riachi M,Yilmaz S,Kurnaz E,Aycan Z,Çetinkaya S,Tranebjærg L,Rendtorff ND,Bitner-Glindzicz M,Bockenhauer D,Hussain K

更新日期：2019-11-15 00:00:00

abstract：:Mucolipidosis IV (MLIV) is an orphan neurodevelopmental disease that causes severe neurologic dysfunction and loss of vision. Currently there is no therapy for MLIV. It is caused by loss of function of the lysosomal channel mucolipin-1, also known as TRPML1. Knockout of the Mcoln1 gene in a mouse model mirrors clinica...

journal_title：Human molecular genetics

authors： Weinstock LD,Furness AM,Herron SS,Smith SS,Sankar SB,DeRosa SG,Gao D,Mepyans ME,Scotto Rosato A,Medina DL,Vardi A,Ferreira NS,Cho SM,Futerman AH,Slaugenhaupt SA,Wood LB,Grishchuk Y

更新日期：2018-08-01 00:00:00

abstract：:Bloom's syndrome (BS) is an autosomal recessive disorder that is invariably characterized by severe growth retardation and cancer predisposition. The Bloom's syndrome helicase (BLM), mutations of which lead to BS, localizes to promyelocytic leukemia protein bodies and to the nucleolus of the cell, the site of RNA poly...

journal_title：Human molecular genetics

authors： Grierson PM,Lillard K,Behbehani GK,Combs KA,Bhattacharyya S,Acharya S,Groden J

更新日期：2012-03-01 00:00:00

abstract：:We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.G...

journal_title：Human molecular genetics

authors： Hardies K,May P,Djémié T,Tarta-Arsene O,Deconinck T,Craiu D,AR working group of the EuroEPINOMICS RES Consortium.,Helbig I,Suls A,Balling R,Weckhuysen S,De Jonghe P,Hirst J

更新日期：2015-04-15 00:00:00

abstract：:Genetic variants in one-carbon folate metabolism have been identified as risk factors for disease because they may impair the production or use of one-carbon folates required for nucleotide synthesis and methylation. p.R653Q (1958G>A) is a single-nucleotide polymorphism (SNP) in the 10-formyltetrahydrofolate (formylTH...

journal_title：Human molecular genetics

authors： Christensen KE,Deng L,Leung KY,Arning E,Bottiglieri T,Malysheva OV,Caudill MA,Krupenko NI,Greene ND,Jerome-Majewska L,MacKenzie RE,Rozen R

更新日期：2013-09-15 00:00:00

abstract：:An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA, poly GP, poly GR, ...

journal_title：Human molecular genetics

authors： Lee YB,Baskaran P,Gomez-Deza J,Chen HJ,Nishimura AL,Smith BN,Troakes C,Adachi Y,Stepto A,Petrucelli L,Gallo JM,Hirth F,Rogelj B,Guthrie S,Shaw CE

更新日期：2017-12-15 00:00:00

abstract：:FcgRIIa and FcgRIIIa are potent modulators of the immune system which bind (auto)antibodies and activate immune cells. The FcgRIIa*A519G and FcgRIIIa*A559C functional variants have been associated with several immune-related diseases. We studied FcgRIIa*A519G and FcgRIIIa*A559C SNPs in type 1 diabetes (T1D), celiac di...

journal_title：Human molecular genetics

authors： Alizadeh BZ,Valdigem G,Coenen MJ,Zhernakova A,Franke B,Monsuur A,van Riel PL,Barrera P,Radstake TR,Roep BO,Wijmenga C,Koeleman BP

更新日期：2007-11-01 00:00:00

abstract：:Human leukocyte antigen (HLA)-E is a non-classical major histocompatibility complex class I (Ib) molecule, which plays an important role in immunosuppression. In this study, we investigated the immunomodulating effect of HLA-E in a xenogeneic system, using human placental artery-derived endothelial (hPAE) cells expres...

journal_title：Human molecular genetics

authors： Cui CH,Miyoshi S,Tsuji H,Makino H,Kanzaki S,Kami D,Terai M,Suzuki H,Umezawa A

更新日期：2011-01-15 00:00:00

abstract：:The gene B lymphocyte kinase (BLK) is associated with rheumatoid arthritis, systemic lupus erythematosus and several other autoimmune disorders. The disease risk haplotype is known to be associated with reduced expression of BLK mRNA transcript in human B cell lines; however, little is known about cis-regulation of BL...

journal_title：Human molecular genetics

authors： Simpfendorfer KR,Olsson LM,Manjarrez Orduño N,Khalili H,Simeone AM,Katz MS,Lee AT,Diamond B,Gregersen PK

更新日期：2012-09-01 00:00:00

abstract：:Peak bone mass achieved in adolescence is a determinant of bone mass in later life. In order to identify genetic variants affecting bone mineral density (BMD), we performed a genome-wide association study of BMD and related traits in 1518 children from the Avon Longitudinal Study of Parents and Children (ALSPAC). We c...

journal_title：Human molecular genetics

authors： Timpson NJ,Tobias JH,Richards JB,Soranzo N,Duncan EL,Sims AM,Whittaker P,Kumanduri V,Zhai G,Glaser B,Eisman J,Jones G,Nicholson G,Prince R,Seeman E,Spector TD,Brown MA,Peltonen L,Smith GD,Deloukas P,Evans DM

更新日期：2009-04-15 00:00:00

abstract：:The autosomal-recessive mutation hydrocephalus3 (hy3) results in lethal communicating hydrocephalus with perinatal onset. We recently described a hydrocephalus-inducing transgenic insertional mutation, OVE459, which represents a new allele of hy3. Direct cDNA selection performed on a wild-type mouse BAC clone spanning...

journal_title：Human molecular genetics

authors： Davy BE,Robinson ML

更新日期：2003-05-15 00:00:00

abstract：:P/Q-type voltage-gated calcium channels are regulated, in part, through the cytoplasmic C-terminus of their alpha1A subunit. Genetic absence or alteration of the C-terminus leads to abnormal channel function and neurological disease. Here, we show that the terminal 60-75 kDa of the endogenous alpha1A C-terminus is cle...

journal_title：Human molecular genetics

authors： Kordasiewicz HB,Thompson RM,Clark HB,Gomez CM

更新日期：2006-05-15 00:00:00

abstract：:Limb-girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy are hereditary skeletal muscle disorders caused by mutations in TRIM32. We previously identified TRIM32 as an E3 ubiquitin ligase that binds to myosin and ubiquitinates actin. To date four TRIM32 mutations have been linked to LGMD2H, all of whic...

journal_title：Human molecular genetics

authors： Kudryashova E,Wu J,Havton LA,Spencer MJ

更新日期：2009-04-01 00:00:00

abstract：:Circletail is one of only two mouse mutants that exhibit the most severe form of neural tube defect (NTD), termed craniorachischisis. In this disorder, almost the entire brain and spinal cord is affected, owing to a failure to initiate neural tube closure. Craniorachischisis is a significant cause of lethality in huma...

journal_title：Human molecular genetics

authors： Murdoch JN,Henderson DJ,Doudney K,Gaston-Massuet C,Phillips HM,Paternotte C,Arkell R,Stanier P,Copp AJ

更新日期：2003-01-15 00:00:00

abstract：:Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion regi...

journal_title：Human molecular genetics

authors： Coppinger J,McDonald-McGinn D,Zackai E,Shane K,Atkin JF,Asamoah A,Leland R,Weaver DD,Lansky-Shafer S,Schmidt K,Feldman H,Cohen W,Phalin J,Powell B,Ballif BC,Theisen A,Geiger E,Haldeman-Englert C,Shaikh TH,Saitta S,

更新日期：2009-04-15 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are the two common neurodegenerative diseases that have been associated with the GGGGCC·GGCCCC repeat RNA expansion in a noncoding region of C9orf72. It has been previously reported that unconventional repeat-associated non-ATG (RAN) translation of ...

journal_title：Human molecular genetics

authors： Tao Z,Wang H,Xia Q,Li K,Li K,Jiang X,Xu G,Wang G,Ying Z

更新日期：2015-05-01 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder characterized by recurrent dyskinesia attacks triggered by sudden movement. PRRT2 has been identified as the first causative gene of PKD. However, it is only responsible for approximately half of affected individuals, indicating that other lo...

journal_title：Human molecular genetics

authors： Yin XM,Lin JH,Cao L,Zhang TM,Zeng S,Zhang KL,Tian WT,Hu ZM,Li N,Wang JL,Guo JF,Wang RX,Xia K,Zhang ZH,Yin F,Peng J,Liao WP,Yi YH,Liu JY,Yang ZX,Chen Z,Mao X,Yan XX,Jiang H,Shen L,Chen SD,Zhang LM,Tan

更新日期：2018-02-15 00:00:00

abstract：:Integrating single-cell RNA sequencing (scRNA-seq) data with genotypes obtained from DNA sequencing studies facilitates the detection of functional genetic variants underlying cell type-specific gene expression variation. Unfortunately, most existing scRNA-seq studies do not come with DNA sequencing data; thus, being ...

journal_title：Human molecular genetics

authors： Schnepp PM,Chen M,Keller ET,Zhou X

更新日期：2019-11-01 00:00:00

abstract：:Losing of ovarian functions prior to natural menopause age causes female infertility and early menopause. Premature ovarian insufficiency (POI) is defined as the loss of ovarian activity before 40 years of age. Known genetic causes account for 25-30% of POI cases, demonstrating the high genetic heterogeneity of POI an...

journal_title：Human molecular genetics

authors： Chen Q,Ke H,Luo X,Wang L,Wu Y,Tang S,Li J,Jin L,Zhang F,Qin Y,Chen X

更新日期：2020-09-29 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing the bone marrow failure syndrome, dyskeratosis congenita (DKC; OMIM 305000). The majority of mutations identified to date are missense mutations and are clustered in exons 3, 4 and 11. It is predicted that the corresponding protein dyskerin is a nucleolar phosphop...

journal_title：Human molecular genetics

authors： Heiss NS,Girod A,Salowsky R,Wiemann S,Pepperkok R,Poustka A

更新日期：1999-12-01 00:00:00

abstract：:Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease. Its delineation is based on five geographically associated Norwegian families where ...

journal_title：Human molecular genetics

authors： Gedde-Dahl T Jr,Dupuy BM,Jonassen R,Winberg JO,Anton-Lamprecht I,Olaisen B

更新日期：1994-08-01 00:00:00

abstract：:Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents...

journal_title：Human molecular genetics

authors： Lostal W,Bartoli M,Bourg N,Roudaut C,Bentaïb A,Miyake K,Guerchet N,Fougerousse F,McNeil P,Richard I

更新日期：2010-05-15 00:00:00

abstract：:Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome presenting in early life, Finnish type congenital nephrotic syndrome (CNF) and a form of autosomal recessive familial focal segmental glomerulosclerosis (SRN1), respectively. To inves...

journal_title：Human molecular genetics

authors： Koziell A,Grech V,Hussain S,Lee G,Lenkkeri U,Tryggvason K,Scambler P

更新日期：2002-02-15 00:00:00

abstract：:Neurofibromas are common tumors found in neurofibromatosis type 1 (NF1) patients. These complex tumors are composed of Schwann cells, mast cells, fibroblasts and perineurial cells embedded in collagen that provide a lattice for tumor invasion. Genetic studies demonstrate that in neurofibromas, nullizygous loss of Nf1 ...

journal_title：Human molecular genetics

authors： Yang FC,Chen S,Clegg T,Li X,Morgan T,Estwick SA,Yuan J,Khalaf W,Burgin S,Travers J,Parada LF,Ingram DA,Clapp DW

更新日期：2006-08-15 00:00:00

abstract：:Osteoarthritis (OA), a common skeletal disease, is a leading cause of disability among the elderly populations. OA is characterized by gradual loss of articular cartilage, but the etiology and pathogenesis of OA are largely unknown. Epidemiological and genetic studies have demonstrated that genetic factors play an imp...

journal_title：Human molecular genetics

authors： Mototani H,Mabuchi A,Saito S,Fujioka M,Iida A,Takatori Y,Kotani A,Kubo T,Nakamura K,Sekine A,Murakami Y,Tsunoda T,Notoya K,Nakamura Y,Ikegawa S

更新日期：2005-04-15 00:00:00

abstract：:The timing of DNA replication appears to be an important epigenetic regulator of gene expression during development. Replication of active genes in expressing tissues occurs earlier than does replication of their inactive counterparts in nonexpressing tissues. This pattern is also observed for active and inactive alle...

journal_title：Human molecular genetics

authors： Hansen RS,Canfield TK,Gartler SM

更新日期：1995-05-01 00:00:00

abstract：:Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Although the mutant protein is widely expressed, the earliest and most striking neuropathological changes are observed in the striatum. Here we show dramatic mutation length increases (gai...

journal_title：Human molecular genetics

authors： Kennedy L,Evans E,Chen CM,Craven L,Detloff PJ,Ennis M,Shelbourne PF

更新日期：2003-12-15 00:00:00