Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization.

abstract：:When the mode of inheritance of a disease is unknown, the LOD-score method of linkage analysis must take into account uncertainties in model parameters. We have previously proposed a parametric linkage test called "MFLOD," which does not require specification of disease model parameters. In the present study, we intro...

journal_title：American journal of human genetics

authors： Sham PC,Lin MW,Zhao JH,Curtis D

更新日期：2000-05-01 00:00:00

abstract：:Although intensive efforts have been undertaken to elucidate the genetic background of immunoglobulin A nephropathy (IgAN), genetic factors associated with the pathogenesis of this disease are still not well understood. We designed a case-control association study that was based on linkage disequilibrium among single-...

journal_title：American journal of human genetics

authors： Takei T,Iida A,Nitta K,Tanaka T,Ohnishi Y,Yamada R,Maeda S,Tsunoda T,Takeoka S,Ito K,Honda K,Uchida K,Tsuchiya K,Suzuki Y,Fujioka T,Ujiie T,Nagane Y,Miyano S,Narita I,Gejyo F,Nihei H,Nakamura Y

更新日期：2002-03-01 00:00:00

abstract：:An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and fla...

journal_title：American journal of human genetics

authors： Krahe R,Eckhart M,Ogunniyi AO,Osuntokun BO,Siciliano MJ,Ashizawa T

更新日期：1995-05-01 00:00:00

abstract：:Steroid-resistant nephrotic syndrome (SRNS) is characterized by high-range proteinuria and most often focal and segmental glomerulosclerosis (FSGS). Identification of mutations in genes causing SRNS has improved our understanding of disease mechanisms and highlighted defects in the podocyte, a highly specialized glome...

journal_title：American journal of human genetics

authors： Dorval G,Kuzmuk V,Gribouval O,Welsh GI,Bierzynska A,Schmitt A,Miserey-Lenkei S,Koziell A,Haq S,Benmerah A,Mollet G,Boyer O,Saleem MA,Antignac C

更新日期：2019-02-07 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecu...

journal_title：American journal of human genetics

authors： MacCollin M,Ramesh V,Jacoby LB,Louis DN,Rubio MP,Pulaski K,Trofatter JA,Short MP,Bove C,Eldridge R

更新日期：1994-08-01 00:00:00

abstract：:Prior to the implementation of predictive-testing programs for Huntington disease (HD), significant concern was raised concerning the likelihood of catastrophic events (CEs), particularly in those persons receiving an increased-risk result. We have investigated the frequency of CEs-that is, suicide, suicide attempt, a...

journal_title：American journal of human genetics

authors： Almqvist EW,Bloch M,Brinkman R,Craufurd D,Hayden MR

更新日期：1999-05-01 00:00:00

abstract：:A novel type IV collagen, alpha 3(IV), has recently been identified in human and bovine basement membranes. Here we describe the cloning and sequencing of a cDNA encoding 218 residues of the NC1 domain of the human alpha 3(IV) chain. Of interest is the possible role of abnormalities of the alpha 3(IV) chain in Alport ...

journal_title：American journal of human genetics

authors： Morrison KE,Mariyama M,Yang-Feng TL,Reeders ST

更新日期：1991-09-01 00:00:00

abstract：:Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture. Mutations in COL1A1 and COL1A2, which encode the chains of type I procollagen, result in dominant forms of OI, and mutations in several other genes result in recess...

journal_title：American journal of human genetics

authors： Pyott SM,Tran TT,Leistritz DF,Pepin MG,Mendelsohn NJ,Temme RT,Fernandez BA,Elsayed SM,Elsobky E,Verma I,Nair S,Turner EH,Smith JD,Jarvik GP,Byers PH

更新日期：2013-04-04 00:00:00

abstract：:Genome-wide association studies are routinely conducted to identify genetic variants that influence complex disorders. It is well known that failure to properly account for population or pedigree structure can lead to spurious association as well as reduced power. We propose a method, ROADTRIPS, for case-control assoc...

journal_title：American journal of human genetics

authors： Thornton T,McPeek MS

更新日期：2010-02-12 00:00:00

abstract：:A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restriction site and thus...

journal_title：American journal of human genetics

authors： Huoponen K,Vilkki J,Aula P,Nikoskelainen EK,Savontaus ML

更新日期：1991-06-01 00:00:00

abstract：:We have previously reported that an X-linked recessive form of chronic idiopathic intestinal pseudo-obstruction (CIIPX) maps to Xq28. To select candidate genes for the disease, we analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. We selected and sequenced seven genes and...

journal_title：American journal of human genetics

authors： Gargiulo A,Auricchio R,Barone MV,Cotugno G,Reardon W,Milla PJ,Ballabio A,Ciccodicola A,Auricchio A

更新日期：2007-04-01 00:00:00

abstract：:Six closely linked PRP (proline-rich protein) genes code for many salivary PRPs that show frequent length and null variants. From determined protein sequences and DNA sequence analysis of variant alleles, we here report the coding and molecular basis for Con (concanavalin A-binding) and Po (parotid "o") protein polymo...

journal_title：American journal of human genetics

authors： Azen EA,Amberger E,Fisher S,Prakobphol A,Niece RL

更新日期：1996-01-01 00:00:00

abstract：:Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single af...

journal_title：American journal of human genetics

authors： Twigg SRF,Hufnagel RB,Miller KA,Zhou Y,McGowan SJ,Taylor J,Craft J,Taylor JC,Santoro SL,Huang T,Hopkin RJ,Brady AF,Clayton-Smith J,Clericuzio CL,Grange DK,Groesser L,Hafner C,Horn D,Temple IK,Dobyns WB,Curry CJ,

更新日期：2016-06-02 00:00:00

abstract：:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsen...

journal_title：American journal of human genetics

authors： Gazda HT,Grabowska A,Merida-Long LB,Latawiec E,Schneider HE,Lipton JM,Vlachos A,Atsidaftos E,Ball SE,Orfali KA,Niewiadomska E,Da Costa L,Tchernia G,Niemeyer C,Meerpohl JJ,Stahl J,Schratt G,Glader B,Backer K,Wong C,

更新日期：2006-12-01 00:00:00

abstract：:Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced myopathies, exercise-induced cramps, and inherited myasthenia, but also exist as a pure genetic form characterized by slowly p...

journal_title：American journal of human genetics

authors： Böhm J,Chevessier F,Maues De Paula A,Koch C,Attarian S,Feger C,Hantaï D,Laforêt P,Ghorab K,Vallat JM,Fardeau M,Figarella-Branger D,Pouget J,Romero NB,Koch M,Ebel C,Levy N,Krahn M,Eymard B,Bartoli M,Laporte J

更新日期：2013-02-07 00:00:00

abstract：:The Ta (transcribed, subset a) subfamily of L1 LINEs (long interspersed elements) is characterized by a 3-bp ACA sequence in the 3' untranslated region and contains approximately 520 members in the human genome. Here, we have extracted 468 Ta L1Hs (L1 human specific) elements from the draft human genomic sequence and ...

journal_title：American journal of human genetics

authors： Myers JS,Vincent BJ,Udall H,Watkins WS,Morrish TA,Kilroy GE,Swergold GD,Henke J,Henke L,Moran JV,Jorde LB,Batzer MA

更新日期：2002-08-01 00:00:00

abstract：:Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found tw...

journal_title：American journal of human genetics

authors： Lowden JA,Ives EJ,Keene DL,Burton AL,Skomorowski MA,Howard F

更新日期：1978-01-01 00:00:00

abstract：:We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...

journal_title：American journal of human genetics

authors： Musumeci O,Andreu AL,Shanske S,Bresolin N,Comi GP,Rothstein R,Schon EA,DiMauro S

更新日期：2000-06-01 00:00:00

abstract：:The first hypervariable segment of the human mtDNA control region contains a homopolymeric tract of cytosines between nt 16184 and 16193, interrupted at position 16189 by a thymine, according to the Cambridge reference sequence. A variant commonly found in population screening is a T-to-C transition at nt 16189, resul...

journal_title：American journal of human genetics

authors： Bendall KE,Sykes BC

更新日期：1995-08-01 00:00:00

abstract：:Results are presented on chromosome analyses made on 4,481 embryos or fetuses studied through chorionic villus sampling (CVS) in whom there was no known bias to presence of a chromosome abnormality except advanced parental age. We excluded from the analysis most cases in which mosaicism was diagnosed or in which there...

journal_title：American journal of human genetics

authors： Hook EB,Cross PK,Jackson L,Pergament E,Brambati B

更新日期：1988-06-01 00:00:00

abstract：:Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Yet, germline mutat...

journal_title：American journal of human genetics

authors： Borrego S,Wright FA,Fernández RM,Williams N,López-Alonso M,Davuluri R,Antiñolo G,Eng C

更新日期：2003-01-01 00:00:00

abstract：:We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.15...

journal_title：American journal of human genetics

authors： Rainger J,Pehlivan D,Johansson S,Bengani H,Sanchez-Pulido L,Williamson KA,Ture M,Barker H,Rosendahl K,Spranger J,Horn D,Meynert A,Floyd JA,Prescott T,Anderson CA,Rainger JK,Karaca E,Gonzaga-Jauregui C,Jhangiani S,Mu

更新日期：2014-06-05 00:00:00

abstract：:We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early dea...

journal_title：American journal of human genetics

authors： Wortmann SB,Ziętkiewicz S,Kousi M,Szklarczyk R,Haack TB,Gersting SW,Muntau AC,Rakovic A,Renkema GH,Rodenburg RJ,Strom TM,Meitinger T,Rubio-Gozalbo ME,Chrusciel E,Distelmaier F,Golzio C,Jansen JH,van Karnebeek C,Lillqu

更新日期：2015-02-05 00:00:00

abstract：:False-positive or false-negative results attributable to undetected genotyping errors and confounding factors present a constant challenge for genome-wide association studies (GWAS) given the low signals associated with complex phenotypes and the noise associated with high-throughput genotyping. In the context of the ...

journal_title：American journal of human genetics

authors： Pluzhnikov A,Below JE,Konkashbaev A,Tikhomirov A,Kistner-Griffin E,Roe CA,Nicolae DL,Cox NJ

更新日期：2010-07-09 00:00:00

abstract：:A genomewide screen for quantitative-trait loci (QTLs) that underlie asthma was performed on 533 Chinese families with asthma, by the unified Haseman-Elston method. Nine asthma-related phenotypes were studied, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), airway responsiveness as indic...

journal_title：American journal of human genetics

authors： Xu X,Fang Z,Wang B,Chen C,Guang W,Jin Y,Yang J,Lewitzky S,Aelony A,Parker A,Meyer J,Weiss ST,Xu X

更新日期：2001-12-01 00:00:00

abstract：:Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...

journal_title：American journal of human genetics

authors： Ikeda H,Sasaki T,Yoshimoto T,Fukui M,Arinami T

更新日期：1999-02-01 00:00:00

abstract：:Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximate...

journal_title：American journal of human genetics

authors： Savino M,Ianzano L,Strippoli P,Ramenghi U,Arslanian A,Bagnara GP,Joenje H,Zelante L,Savoia A

更新日期：1997-12-01 00:00:00

abstract：:Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY ...

journal_title：American journal of human genetics

authors： Tsuchiya K,Reijo R,Page DC,Disteche CM

更新日期：1995-12-01 00:00:00

abstract：:Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family. By direct sequencing, w...

journal_title：American journal of human genetics

authors： Pasternack SM,Refke M,Paknia E,Hennies HC,Franz T,Schäfer N,Fryer A,van Steensel M,Sweeney E,Just M,Grimm C,Kruse R,Ferrándiz C,Nöthen MM,Fischer U,Betz RC

更新日期：2013-01-10 00:00:00

abstract：:Five X-chromosome DNA markers were typed on 261 members of three large kindreds with Alport syndrome (hereditary glomerulonephritis). Lod scores greater than 3.0 for linkage between the disease locus and two of the markers confirmed X-linked inheritance of the disease. A decreasing gradient in the estimated recombinat...

journal_title：American journal of human genetics

authors： Atkin CL,Hasstedt SJ,Menlove L,Cannon L,Kirschner N,Schwartz C,Nguyen K,Skolnick M

更新日期：1988-02-01 00:00:00