Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

abstract：:Recessive mutations in myosin 15, a class XV unconventional myosin, cause profound congenital deafness in humans and both deafness and vestibular dysfunction in mice homozygous for the shaker 2 and shaker 2(J) alleles. The shaker 2 allele is a previously described missense mutation of a highly conserved residue in the...

journal_title：Human molecular genetics

authors： Anderson DW,Probst FJ,Belyantseva IA,Fridell RA,Beyer L,Martin DM,Wu D,Kachar B,Friedman TB,Raphael Y,Camper SA

更新日期：2000-07-22 00:00:00

abstract：:Zfp42/Rex1 (reduced expression gene 1) is a well-known stem-cell marker that has been duplicated from YY1 in the eutherian lineage. In the current study, we characterized the in vivo roles of Rex1 using a mutant mouse line disrupting its transcription. In contrast to the ubiquitous expression of YY1, Rex1 is expressed...

journal_title：Human molecular genetics

authors： Kim JD,Kim H,Ekram MB,Yu S,Faulk C,Kim J

更新日期：2011-04-01 00:00:00

abstract：:The molecular defects responsible for three cases of severe (type III) osteogenesis imperfecta (OI) were investigated. The mutation sites were localized in pro alpha 1(I) and pro alpha 2(I) mRNA molecules, respectively, by chemical cleavage of mismatch in heteroduplex nucleic acids. Mutation identification was achieve...

journal_title：Human molecular genetics

authors： Forlino A,Zolezzi F,Valli M,Pignatti PF,Cetta G,Brunelli PC,Mottes M

更新日期：1994-12-01 00:00:00

abstract：:To maintain the female reproductive lifespan, the majority of ovarian primordial follicles are preserved in a quiescent state in order to provide ova for later reproductive life. However, the molecular mechanism that maintains the long quiescence of primordial follicles is poorly understood. Here we provide genetic ev...

journal_title：Human molecular genetics

authors： Adhikari D,Zheng W,Shen Y,Gorre N,Hämäläinen T,Cooney AJ,Huhtaniemi I,Lan ZJ,Liu K

更新日期：2010-02-01 00:00:00

abstract：:Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy and polyglucosan intracellular inclusion bodies, called Lafora bodies. Lafora bodies resemble glycogen with reduced branchi...

journal_title：Human molecular genetics

authors： Fernández-Sánchez ME,Criado-García O,Heath KE,García-Fojeda B,Medraño-Fernández I,Gomez-Garre P,Sanz P,Serratosa JM,Rodríguez de Córdoba S

更新日期：2003-12-01 00:00:00

abstract：:NADH-ubiquinone oxidoreductase (complex I) deficiency is amongst the most encountered defects of the mitochondrial oxidative phosphorylation (OXPHOS) system and is associated with a wide variety of clinical signs and symptoms. Mutations in complex I nuclear structural genes are the most common cause of isolated comple...

journal_title：Human molecular genetics

authors： Ugalde C,Janssen RJ,van den Heuvel LP,Smeitink JA,Nijtmans LG

更新日期：2004-03-15 00:00:00

abstract：:A randomization procedure to evaluate the significance level and the false-discovery rate in complex microarray experiments is proposed. A related graph can be used to compare different test statistics that can be used to analyze the same experiment. This graph is closely related to receiver operator characteristic (R...

journal_title：Human molecular genetics

authors： Kooperberg C,Sipione S,LeBlanc M,Strand AD,Cattaneo E,Olson JM

更新日期：2002-09-15 00:00:00

abstract：:Spinocerebellar ataxia type 1 (SCA1) is one of nine dominantly inherited neurodegenerative diseases caused by polyglutamine tract expansion. In SCA1, the expanded polyglutamine tract is in the ataxin-1 (ATXN1) protein. ATXN1 is part of an in vivo complex with retinoid acid receptor-related orphan receptor alpha (Rora)...

journal_title：Human molecular genetics

authors： Gehrking KM,Andresen JM,Duvick L,Lough J,Zoghbi HY,Orr HT

更新日期：2011-06-01 00:00:00

abstract：:Linkage analysis of type 1 diabetes sib pair families (n = 334) has suggested two separate regions of human chromosome 6q are linked to disease (designated IDDM5 and IDDM8). To test if these are false positive results, all available sib pair families (n = 429) were typed using a 92% informative map of chromosome 6q an...

journal_title：Human molecular genetics

authors： Davies JL,Cucca F,Goy JV,Atta ZA,Merriman ME,Wilson A,Barnett AH,Bain SC,Todd JA

更新日期：1996-07-01 00:00:00

abstract：:Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and mice, gene augmentation therapy has been shown to arrest the progressive degeneration of rod and cone photoreceptors. However, the distribution of potentially tre...

journal_title：Human molecular genetics

authors： Charng J,Cideciyan AV,Jacobson SG,Sumaroka A,Schwartz SB,Swider M,Roman AJ,Sheplock R,Anand M,Peden MC,Khanna H,Heon E,Wright AF,Swaroop A

更新日期：2016-12-15 00:00:00

abstract：:Ciliary trafficking defects underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigmentosa (RP). Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-associated photoreceptor degen...

journal_title：Human molecular genetics

authors： Rao KN,Zhang W,Li L,Anand M,Khanna H

更新日期：2016-10-15 00:00:00

abstract：:Atopic (allergic) asthma is the most common disease of childhood and is strongly genetic in origin. Many genome-wide screens for asthma and its associated traits have now been carried out, and genetic linkage has been consistently identified in several regions. It is probable that these loci contain major genes influe...

journal_title：Human molecular genetics

authors： Cookson WO,Moffatt MF

更新日期：2000-10-01 00:00:00

abstract：:Meiotic recombination is of fundamental importance in creating haplotype diversity in the human genome and has the potential to cause genomic rearrangements by ectopic recombination between repeat sequences and through other changes triggered by recombination-initiating events. However, the relationship between alleli...

journal_title：Human molecular genetics

authors： Holloway K,Lawson VE,Jeffreys AJ

更新日期：2006-04-01 00:00:00

abstract：:Genome-wide association studies have identified over 150 loci associated with lipid traits, however, no large-scale studies exist for Hispanics and other minority populations. Additionally, the genetic architecture of lipid-influencing loci remains largely unknown. We performed one of the most racially/ethnically dive...

journal_title：Human molecular genetics

authors： Zubair N,Graff M,Luis Ambite J,Bush WS,Kichaev G,Lu Y,Manichaikul A,Sheu WH,Absher D,Assimes TL,Bielinski SJ,Bottinger EP,Buzkova P,Chuang LM,Chung RH,Cochran B,Dumitrescu L,Gottesman O,Haessler JW,Haiman C,Heiss

更新日期：2016-12-15 00:00:00

abstract：:PAX genes encode nuclear transcription factors which are rapidly becoming regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine Pax genes underlie three natural mouse alleles and two corresponding human syndromes. Murine Pax genes have been shown to be prot...

journal_title：Human molecular genetics

authors： Stuart ET,Gruss P

更新日期：1995-01-01 00:00:00

abstract：:In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequ...

journal_title：Human molecular genetics

authors： Nakao M,Sutcliffe JS,Durtschi B,Mutirangura A,Ledbetter DH,Beaudet AL

更新日期：1994-02-01 00:00:00

abstract：:Clinical observations and epidemiologic studies suggest that the incidence of head and neck squamous cell carcinoma (HNSCC) correlates with dental hygiene, implying a role for bacteria-induced inflammation in its pathogenesis. Here we begin to explore the pilot hypothesis that specific microbial populations may contri...

journal_title：Human molecular genetics

authors： Bebek G,Bennett KL,Funchain P,Campbell R,Seth R,Scharpf J,Burkey B,Eng C

更新日期：2012-04-01 00:00:00

abstract：:Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterized by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine...

journal_title：Human molecular genetics

authors： Whiting EJ,Waring JD,Tamai K,Somerville MJ,Hincke M,Staines WA,Ikeda JE,Korneluk RG

更新日期：1995-06-01 00:00:00

abstract：:Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense mutation, Arg527His, ...

journal_title：Human molecular genetics

authors： Agarwal AK,Fryns JP,Auchus RJ,Garg A

更新日期：2003-08-15 00:00:00

abstract：:We have constructed a YAC contig containing 54 clones and a minimum of 7 Mbp of human DNA, that maps to bands q34-35 on chromosome 5. The contig was nucleated using FISH mapped cosmid clones shown to flank the t(2;5)(p23;q35) translocation breakpoint in a CD30-positive large cell lymphoma cell line. Thirty of the 54 Y...

journal_title：Human molecular genetics

authors： Lu-Kuo JM,Le Paslier D,Weissenbach J,Chumakov I,Cohen D,Ward DC

更新日期：1994-01-01 00:00:00

abstract：:Release of amyloid beta (Abeta) from the amyloid precursor protein (APP) requires cleavages by beta- and gamma-secretases and plays a crucial role in Alzheimer's disease (AD) pathogenesis. Missense mutations in the APP gene causing familial AD are clustered around the beta-, alpha- and particular gamma-secretase cleav...

journal_title：Human molecular genetics

authors： De Jonghe C,Esselens C,Kumar-Singh S,Craessaerts K,Serneels S,Checler F,Annaert W,Van Broeckhoven C,De Strooper B

更新日期：2001-08-01 00:00:00

abstract：:The extracellular microfibril, 10-14 nm in diameter, performs a number of functions, including serving as the scaffolding for deposition of tropoelastin to form elastic fibers. A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 is encoded by FBN...

journal_title：Human molecular genetics

authors： Dietz HC,Pyeritz RE

更新日期：1995-01-01 00:00:00

abstract：:By sequencing 11,405 individual expressed sequence tags (ESTs) from a cDNA library of a human skeletal muscle, we identified 1945 individual transcripts, 725 of which showed no correspondence with known human genes. We report here the chromosomal localization of 267 of these, obtained by radiation hybrid (RH) mapping....

journal_title：Human molecular genetics

authors： Pallavicini A,Zimbello R,Tiso N,Muraro T,Rampoldi L,Bortoluzzi S,Valle G,Lanfranchi G,Danieli GA

更新日期：1997-09-01 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron gene (SMN1). In humans, two nearly identical copies of SMN exist and differ only by a single non-polymorphic C-->T nucleotide transition in exon 7. SMN1 contains a 'C' nucleotide at the +6 position of exon 7 and produces primari...

journal_title：Human molecular genetics

authors： DiDonato CJ,Lorson CL,De Repentigny Y,Simard L,Chartrand C,Androphy EJ,Kothary R

更新日期：2001-11-01 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：:ARHI has been identified as a maternally imprinted tumor suppressor gene that maps to chromosome 1p31 and whose expression is markedly down-regulated in breast cancer. To explore possible mechanisms that could silence ARHI expression, we have tested the importance of DNA methylation, histone acetylation and histone me...

journal_title：Human molecular genetics

authors： Fujii S,Luo RZ,Yuan J,Kadota M,Oshimura M,Dent SR,Kondo Y,Issa JP,Bast RC Jr,Yu Y

更新日期：2003-08-01 00:00:00

abstract：:Megf7/Lrp4 is a member of the functionally diverse low-density lipoprotein receptor gene family, a class of ancient and highly conserved cell surface receptors with broad functions in cargo transport and cellular signaling. To gain insight into the as yet unknown biological role of Megf7/Lrp4, we have disrupted the ge...

journal_title：Human molecular genetics

authors： Johnson EB,Hammer RE,Herz J

更新日期：2005-11-15 00:00:00

abstract：:Somatic and germline mutations in PTEN (phosphatase and tensin homolog deleted on chromosome 10) are found in sporadic cancers and Cowden syndrome patients, respectively. Recent identification of naturally occurring cancer and germline mutations within the ATP-binding motifs of PTEN (heretofore referred to as PTEN ATP...

journal_title：Human molecular genetics

authors： He X,Ni Y,Wang Y,Romigh T,Eng C

更新日期：2011-01-01 00:00:00

abstract：:Titin-truncating variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy. TTNtv occur in ~1% of the general population and causes subclinical cardiac remodeling in asymptomatic carriers. In rat models with either proximal or distal TTNtv, we previously showed altered cardiac metabolism at baseline...

journal_title：Human molecular genetics

authors： Zhou J,Ng B,Ko NSJ,Fiedler LR,Khin E,Lim A,Sahib NE,Wu Y,Chothani SP,Schafer S,Bay BH,Sinha RA,Cook SA,Yen PM

更新日期：2019-06-15 00:00:00

abstract：:We performed a whole genome microsatellite marker scan in six multiplex families with bipolar (BP) mood disorder ascertained in Antioquia, a historically isolated population from North West Colombia. These families were characterized clinically using the approach employed in independent ongoing studies of BP in the cl...

journal_title：Human molecular genetics

authors： Herzberg I,Jasinska A,García J,Jawaheer D,Service S,Kremeyer B,Duque C,Parra MV,Vega J,Ortiz D,Carvajal L,Polanco G,Restrepo GJ,López C,Palacio C,Levinson M,Aldana I,Mathews C,Davanzo P,Molina J,Fournier E,Bejar

更新日期：2006-11-01 00:00:00