Meta-analysis of genome scans of age-related macular degeneration.

abstract：:The chromosome region 17p13.3 is thought to encode a tumour suppressor gene involved in sporadic breast cancer and other malignancies. Physical ordering of markers has been carried out by a series of multicolour fluorescent in situ hybridisation (FISH) experiments, using isolated yeast artificial chromosomes (YACs) an...

journal_title：Human molecular genetics

authors： Stack M,Jones D,White G,Liscia DS,Venesio T,Casey G,Crichton D,Varley J,Mitchell E,Heighway J

更新日期：1995-11-01 00:00:00

abstract：:Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA prop...

journal_title：Human molecular genetics

authors： Garcia-Barceló MM,Yeung MY,Miao XP,Tang CS,Cheng G,So MT,Ngan ES,Lui VC,Chen Y,Liu XL,Hui KJ,Li L,Guo WH,Sun XB,Tou JF,Chan KW,Wu XZ,Song YQ,Chan D,Cheung K,Chung PH,Wong KK,Sham PC,Cherny SS,Tam PK

更新日期：2010-07-15 00:00:00

abstract：:Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse. Whirlin is known to be essential for the elongation process of the stereocilia of sensory hair cells in the inner ear, though its complete spatial and temporal expression patterns remained elusive. H...

journal_title：Human molecular genetics

authors： van Wijk E,van der Zwaag B,Peters T,Zimmermann U,Te Brinke H,Kersten FF,Märker T,Aller E,Hoefsloot LH,Cremers CW,Cremers FP,Wolfrum U,Knipper M,Roepman R,Kremer H

更新日期：2006-03-01 00:00:00

abstract：:The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q3...

journal_title：Human molecular genetics

authors： Lehmann-Horn F,Mailänder V,Heine R,George AL

更新日期：1995-08-01 00:00:00

abstract：:The survival of motor neuron (SMN) protein is mutated in patients with spinal muscular atrophy (SMA). SMN is part of a multiprotein complex required for biogenesis of the Sm class of small nuclear ribonucleoproteins (snRNPs). Following assembly of the Sm core domain, snRNPs are transported to the nucleus via importin ...

journal_title：Human molecular genetics

authors： Narayanan U,Ospina JK,Frey MR,Hebert MD,Matera AG

更新日期：2002-07-15 00:00:00

abstract：:In humans, poor nutrition, malabsorption and variation in cobalamin (vitamin B12) metabolic genes are associated with hematological, neurological and developmental pathologies. Cobalamin is transported from blood into tissues via the transcobalamin (TC) receptor encoded by the CD320 gene. We created mice carrying a ta...

journal_title：Human molecular genetics

authors： Bernard DJ,Pangilinan FJ,Cheng J,Molloy AM,Brody LC

更新日期：2018-10-15 00:00:00

abstract：:Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation. From the analysis of patients carrying deletions and translocations involving the distal short arm of the X chromosome (Xp22.3) we have i...

journal_title：Human molecular genetics

authors： Schiaffino MV,Bassi MT,Rugarli EI,Renieri A,Galli L,Ballabio A

更新日期：1995-03-01 00:00:00

abstract：:Lysosomal storage diseases are due to inherited deficiencies in various enzymes involved in basic metabolic processes. As with other genetic diseases, accurate structure data for these enzymatic proteins should help in better understanding the molecular effects of mutations identified in patients with the correspondin...

journal_title：Human molecular genetics

authors： Durand P,Fabrega S,Henrissat B,Mornon JP,Lehn P

更新日期：2000-04-12 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：:Huntington's disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates. Here we ask whether expanded polyQ is sufficient to cause pathology and aggregate formation. By addressing the sufficiency questi...

journal_title：Human molecular genetics

authors： Chongtham A,Bornemann DJ,Barbaro BA,Lukacsovich T,Agrawal N,Syed A,Worthge S,Purcell J,Burke J,Chin TM,Marsh JL

更新日期：2020-03-13 00:00:00

abstract：:Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manne...

journal_title：Human molecular genetics

authors： Ahmad T,Neville M,Marshall SE,Armuzzi A,Mulcahy-Hawes K,Crawshaw J,Sato H,Ling KL,Barnardo M,Goldthorpe S,Walton R,Bunce M,Jewell DP,Welsh KI

更新日期：2003-03-15 00:00:00

abstract：:Lysinuric protein intolerance (LPI) is an inborn error of cationic amino acid (arginine, lysine, ornithine) transport caused by biallelic pathogenic variants in SLC7A7, which encodes the light subunit of the y+LAT1 transporter. Treatments for the complications of LPI, including growth failure, renal disease, pulmonary...

journal_title：Human molecular genetics

authors： Stroup BM,Marom R,Li X,Hsu CW,Chang CY,Truong LD,Dawson B,Grafe I,Chen Y,Jiang MM,Lanza D,Green JR,Sun Q,Barrish JP,Ani S,Christiansen AE,Seavitt JR,Dickinson ME,Kheradmand F,Heaney JD,Lee B,Burrage LC

更新日期：2020-08-03 00:00:00

abstract：:Human GM1-gangliosidosis is caused by a genetic deficiency of lysosomal acid beta-galactosidase (beta-gal). The disease manifests itself either as an infantile, juvenile or adult form and is primarily a neurological disorder with progressive brain dysfunction. A mouse model lacking a functional beta-gal gene has been ...

journal_title：Human molecular genetics

authors： Hahn CN,del Pilar Martin M,Schröder M,Vanier MT,Hara Y,Suzuki K,Suzuki K,d'Azzo A

更新日期：1997-02-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes. To date we have identified 65 missense mutations in the GALNS gene from MPS IVA patients, but the correlation between genotype a...

journal_title：Human molecular genetics

authors： Sukegawa K,Nakamura H,Kato Z,Tomatsu S,Montaño AM,Fukao T,Toietta G,Tortora P,Orii T,Kondo N

更新日期：2000-05-22 00:00:00

abstract：:Convergent extension (CE) is a fundamental morphogenetic mechanism that underlies numerous processes in vertebrate development, and its disruption can lead to human congenital disorders such as neural tube closure defects. The dynamic, oriented cell intercalation during CE is regulated by a group of core proteins iden...

journal_title：Human molecular genetics

authors： Seo HS,Habas R,Chang C,Wang J

更新日期：2017-06-01 00:00:00

abstract：:α-Mannosidosis is a lysosomal storage disorder caused by mutations in the MAN2B1 gene. The clinical presentation of α-mannosidosis is variable, but typically includes mental retardation, skeletal abnormalities and immune deficiency. In order to understand the molecular aetiology of α-mannosidosis, we describe here the...

journal_title：Human molecular genetics

authors： Kuokkanen E,Riise Stensland HM,Smith W,Kjeldsen Buvang E,Van Nguyen L,Nilssen Ø,Heikinheimo P

更新日期：2011-07-01 00:00:00

abstract：:Machado-Joseph disease (MJD) is a fatal, dominant neurodegenerative disorder. MJD results from polyglutamine repeat expansion in the MJD-1 gene, conferring a toxic gain of function to the ataxin-3 protein. In this study, we aimed at overexpressing ataxin-3 in the rat brain using lentiviral vectors (LV), to generate an...

journal_title：Human molecular genetics

authors： Alves S,Régulier E,Nascimento-Ferreira I,Hassig R,Dufour N,Koeppen A,Carvalho AL,Simões S,de Lima MC,Brouillet E,Gould VC,Déglon N,de Almeida LP

更新日期：2008-07-15 00:00:00

abstract：:The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted dise...

journal_title：Human molecular genetics

authors： Pólvora-Brandão D,Joaquim M,Godinho I,Aprile D,Álvaro AR,Onofre I,Raposo AC,Pereira de Almeida L,Duarte ST,da Rocha ST

更新日期：2018-12-01 00:00:00

abstract：:We have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man. This has defined a small segment ( approximately 135-155 kb) of synteny and conserved gene order, which may contain all of the elements r...

journal_title：Human molecular genetics

authors： Flint J,Tufarelli C,Peden J,Clark K,Daniels RJ,Hardison R,Miller W,Philipsen S,Tan-Un KC,McMorrow T,Frampton J,Alter BP,Frischauf AM,Higgs DR

更新日期：2001-02-15 00:00:00

abstract：:Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents ...

journal_title：Human molecular genetics

authors： Yang GC,Croaker D,Zhang AL,Manglick P,Cartmill T,Cass D

更新日期：1998-06-01 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：:The ratio of the length of the index finger to that of the ring finger (2D:4D) is sexually dimorphic and is commonly used as a non-invasive biomarker of prenatal androgen exposure. Most association studies of 2D:4D ratio with a diverse range of sex-specific traits have typically involved small sample sizes and have be...

journal_title：Human molecular genetics

authors： Warrington NM,Shevroja E,Hemani G,Hysi PG,Jiang Y,Auton A,Boer CG,Mangino M,Wang CA,Kemp JP,McMahon G,Medina-Gomez C,Hickey M,Trajanoska K,Wolke D,Ikram MA,23andMe Research Team.,Montgomery GW,Felix JF,Wright MJ,M

更新日期：2018-06-01 00:00:00

abstract：:Exon shuffling is thought to be an important mechanism for evolution of new genes. Here we show that the mouse neurological mutation flailer (flr) expresses a novel gene that combines the promoter and first two exons of guanine nucleotide binding protein beta 5 (Gnb5) with the C-terminal exons of the closely linked My...

journal_title：Human molecular genetics

authors： Jones JM,Huang JD,Mermall V,Hamilton BA,Mooseker MS,Escayg A,Copeland NG,Jenkins NA,Meisler MH

更新日期：2000-03-22 00:00:00

abstract：:Obesity is a major public health problem with strong genetic determination; however, the genetic factors underlying obesity are largely unknown. In this study, we performed a genome-wide association scan for obesity by examining approximately 500 000 single-nucleotide polymorphisms (SNPs) in a sample of 1000 unrelated...

journal_title：Human molecular genetics

authors： Liu YJ,Liu XG,Wang L,Dina C,Yan H,Liu JF,Levy S,Papasian CJ,Drees BM,Hamilton JJ,Meyre D,Delplanque J,Pei YF,Zhang L,Recker RR,Froguel P,Deng HW

更新日期：2008-06-15 00:00:00

abstract：:Cytosolic accumulation of TAR DNA binding protein 43 (TDP-43) is a major neuropathological feature of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the mechanisms involved in TDP-43 accumulation remain largely unknown. Previously, we reported that inhibitors of cyclin-depen...

journal_title：Human molecular genetics

authors： Moujalled D,James JL,Yang S,Zhang K,Duncan C,Moujalled DM,Parker SJ,Caragounis A,Lidgerwood G,Turner BJ,Atkin JD,Grubman A,Liddell JR,Proepper C,Boeckers TM,Kanninen KM,Blair I,Crouch PJ,White AR

更新日期：2015-03-15 00:00:00

abstract：:Fragile X syndrome, the most common form of inherited mental retardation, is caused by the loss of the fragile X mental retardation protein (FMRP). FMRP is a ubiquitously expressed, multi-domain RNA-binding protein, but its in vivo function remains poorly understood. Recent studies have shown that FMRP participates in...

journal_title：Human molecular genetics

authors： Liu W,Jiang F,Bi X,Zhang YQ

更新日期：2012-11-01 00:00:00

abstract：:The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a bloc...

journal_title：Human molecular genetics

authors： Warner LE,Svaren J,Milbrandt J,Lupski JR

更新日期：1999-07-01 00:00:00

abstract：:Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotid...

journal_title：Human molecular genetics

authors： Dols-Icardo O,García-Redondo A,Rojas-García R,Sánchez-Valle R,Noguera A,Gómez-Tortosa E,Pastor P,Hernández I,Esteban-Pérez J,Suárez-Calvet M,Antón-Aguirre S,Amer G,Ortega-Cubero S,Blesa R,Fortea J,Alcolea D,Capdevila A,

更新日期：2014-02-01 00:00:00

abstract：:A transcription map of the Huntington disease gene region was generated by a direct cDNA selection strategy using genomic DNA from the 4p16.3 region surrounding the D4S95 and D4S127 loci. A total of 58 cDNA fragments were obtained from cDNAs derived from fetal brain, frontal cortex, liver and bone marrow following hyb...

journal_title：Human molecular genetics

authors： Rommens JM,Lin B,Hutchinson GB,Andrew SE,Goldberg YP,Glaves ML,Graham R,Lai V,McArthur J,Nasir J

更新日期：1993-07-01 00:00:00

abstract：:F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...

journal_title：Human molecular genetics

authors： Mayr JA,Havlícková V,Zimmermann F,Magler I,Kaplanová V,Jesina P,Pecinová A,Nusková H,Koch J,Sperl W,Houstek J

更新日期：2010-09-01 00:00:00