Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

abstract：:Despite the growing consensus on the importance of testing gene-gene interactions in genetic studies of complex diseases, the effect of gene-gene interactions has often been defined as a deviance from genetic additive effects, which is essentially treated as a residual term in genetic analysis and leads to low power i...

journal_title：American journal of human genetics

authors： Zhao J,Jin L,Xiong M

更新日期：2006-11-01 00:00:00

abstract：:A subset of nuclear-encoded RNAs has to be imported into mitochondria for the proper replication and transcription of the mitochondrial genome and, hence, for proper mitochondrial function. Polynucleotide phosphorylase (PNPase or PNPT1) is one of the very few components known to be involved in this poorly characterize...

journal_title：American journal of human genetics

authors： von Ameln S,Wang G,Boulouiz R,Rutherford MA,Smith GM,Li Y,Pogoda HM,Nürnberg G,Stiller B,Volk AE,Borck G,Hong JS,Goodyear RJ,Abidi O,Nürnberg P,Hofmann K,Richardson GP,Hammerschmidt M,Moser T,Wollnik B,Koehler CM

更新日期：2012-11-02 00:00:00

abstract：:We analyzed mutations and defined the chromosomal haplotype in 127 patients and Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 Turks, and 6 Albanians. Haplotypes were derived by use of the microsatellite markers D13S301, D13S296, D13S297, and D13S298, which are linked to...

journal_title：American journal of human genetics

authors： Figus A,Angius A,Loudianos G,Bertini C,Dessi V,Loi A,Deiana M,Lovicu M,Olla N,Sole G

更新日期：1995-12-01 00:00:00

abstract：:The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The size and diversity of the MVP cohort, as well as the availabilit...

journal_title：American journal of human genetics

authors： Hunter-Zinck H,Shi Y,Li M,Gorman BR,Ji SG,Sun N,Webster T,Liem A,Hsieh P,Devineni P,Karnam P,Gong X,Radhakrishnan L,Schmidt J,Assimes TL,Huang J,Pan C,Humphries D,Brophy M,Moser J,Muralidhar S,Huang GD,Przygod

更新日期：2020-04-02 00:00:00

abstract：:Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clini...

journal_title：American journal of human genetics

authors： Flanagan SE,Xie W,Caswell R,Damhuis A,Vianey-Saban C,Akcay T,Darendeliler F,Bas F,Guven A,Siklar Z,Ocal G,Berberoglu M,Murphy N,O'Sullivan M,Green A,Clayton PE,Banerjee I,Clayton PT,Hussain K,Weedon MN,Ellard S

更新日期：2013-01-10 00:00:00

abstract：:Germline mutations of PTEN (phosphatase and tensin homolog deleted on chromosome 10) are associated with the multihamartomatous disorder Cowden syndrome (CS). Moreover, patients with CS with germline PTEN promoter mutations have aberrant PTEN protein expression and an increased frequency of breast cancer. Here, we exa...

journal_title：American journal of human genetics

authors： Teresi RE,Zbuk KM,Pezzolesi MG,Waite KA,Eng C

更新日期：2007-10-01 00:00:00

abstract：:The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

journal_title：American journal of human genetics

authors： Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

更新日期：2007-04-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...

journal_title：American journal of human genetics

authors： Hormozdiari F,Kang EY,Bilow M,Ben-David E,Vulpe C,McLachlan S,Lusis AJ,Han B,Eskin E

更新日期：2016-07-07 00:00:00

abstract：:A survey of Wilson disease in Iceland has revealed two large kindreds with affected individuals. We have carried out studies of haplotypes of dinucleotide repeat polymorphisms (CA repeats) flanking the Wilson disease gene. The same mutation, a 7-bp deletion, is present in both families, and the clinical features are s...

journal_title：American journal of human genetics

authors： Thomas GR,Jensson O,Gudmundsson G,Thorsteinsson L,Cox DW

更新日期：1995-05-01 00:00:00

abstract：:Timely molecular diagnosis of RB1 mutations enables earlier treatment, lower risk, and better health outcomes for patients with retinoblastoma; empowers families to make informed family-planning decisions; and costs less than conventional surveillance. However, complexity has hindered clinical implementation of molecu...

journal_title：American journal of human genetics

authors： Richter S,Vandezande K,Chen N,Zhang K,Sutherland J,Anderson J,Han L,Panton R,Branco P,Gallie B

更新日期：2003-02-01 00:00:00

abstract：:Genetic mapping of complex diseases to date depends on variations inside or close to the genes that perturb their activities. A strong body of evidence suggests that changes in gene expression play a key role in complex diseases and that numerous loci perturb gene expression in trans. The information in trans variants...

journal_title：American journal of human genetics

authors： He X,Fuller CK,Song Y,Meng Q,Zhang B,Yang X,Li H

更新日期：2013-05-02 00:00:00

abstract：:X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 a...

journal_title：American journal of human genetics

authors： Breuer DK,Yashar BM,Filippova E,Hiriyanna S,Lyons RH,Mears AJ,Asaye B,Acar C,Vervoort R,Wright AF,Musarella MA,Wheeler P,MacDonald I,Iannaccone A,Birch D,Hoffman DR,Fishman GA,Heckenlively JR,Jacobson SG,Sieving PA

更新日期：2002-06-01 00:00:00

abstract：:X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we have shown that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), w...

journal_title：American journal of human genetics

authors： Kalscheuer VM,Tao J,Donnelly A,Hollway G,Schwinger E,Kübart S,Menzel C,Hoeltzenbein M,Tommerup N,Eyre H,Harbord M,Haan E,Sutherland GR,Ropers HH,Gécz J

更新日期：2003-06-01 00:00:00

abstract：:D1S1, a human anonymous DNA clone originally called lambda Ch4A-H3 or lambda H3, was mapped by two other laboratories to human chromosome 1p36 by in situ hybridization but its localization was not confirmed using a different mapping method. We used a panel of human-hamster somatic cell hybrids to show that there are c...

journal_title：American journal of human genetics

authors： Goode ME,vanTuinen P,Ledbetter DH,Daiger SP

更新日期：1986-04-01 00:00:00

abstract：:Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features. Here, we descr...

journal_title：American journal of human genetics

authors： Howard MF,Murakami Y,Pagnamenta AT,Daumer-Haas C,Fischer B,Hecht J,Keays DA,Knight SJ,Kölsch U,Krüger U,Leiz S,Maeda Y,Mitchell D,Mundlos S,Phillips JA 3rd,Robinson PN,Kini U,Taylor JC,Horn D,Kinoshita T,Krawitz P

更新日期：2014-02-06 00:00:00

abstract：:The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding its extracellular ligand, C-type natriuretic peptide (CNP). CNP has previously been implicated in the regulation of skel...

journal_title：American journal of human genetics

authors： Bartels CF,Bükülmez H,Padayatti P,Rhee DK,van Ravenswaaij-Arts C,Pauli RM,Mundlos S,Chitayat D,Shih LY,Al-Gazali LI,Kant S,Cole T,Morton J,Cormier-Daire V,Faivre L,Lees M,Kirk J,Mortier GR,Leroy J,Zabel B,Kim CA,

更新日期：2004-07-01 00:00:00

abstract：:Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other coun...

journal_title：American journal of human genetics

authors： Dougherty MJ

更新日期：2009-07-01 00:00:00

abstract：:Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous family. This syndrome is characterized by ophthalmic anomalies (...

journal_title：American journal of human genetics

authors： Schorderet DF,Nichini O,Boisset G,Polok B,Tiab L,Mayeur H,Raji B,de la Houssaye G,Abitbol MM,Munier FL

更新日期：2008-05-01 00:00:00

abstract：:N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of t...

journal_title：American journal of human genetics

authors： Cheng H,Dharmadhikari AV,Varland S,Ma N,Domingo D,Kleyner R,Rope AF,Yoon M,Stray-Pedersen A,Posey JE,Crews SR,Eldomery MK,Akdemir ZC,Lewis AM,Sutton VR,Rosenfeld JA,Conboy E,Agre K,Xia F,Walkiewicz M,Longoni M,H

更新日期：2018-05-03 00:00:00

abstract：:Down syndrome (DS) is the most common cause of mental retardation. Many neural phenotypes are shared between DS individuals and DS mouse models; however, the common underlying molecular pathogenetic mechanisms remain unclear. Using a transchromosomic model of DS, we show that a 30%-60% reduced expression of Nrsf/Rest ...

journal_title：American journal of human genetics

authors： Canzonetta C,Mulligan C,Deutsch S,Ruf S,O'Doherty A,Lyle R,Borel C,Lin-Marq N,Delom F,Groet J,Schnappauf F,De Vita S,Averill S,Priestley JV,Martin JE,Shipley J,Denyer G,Epstein CJ,Fillat C,Estivill X,Tybulewicz VL

更新日期：2008-09-01 00:00:00

abstract：:Pooling genome-wide association studies (GWASs) increases power but also poses methodological challenges because studies are often heterogeneous. For example, combining GWASs of related but distinct traits can provide promising directions for the discovery of loci with small but common pleiotropic effects. Classical a...

journal_title：American journal of human genetics

authors： Bhattacharjee S,Rajaraman P,Jacobs KB,Wheeler WA,Melin BS,Hartge P,GliomaScan Consortium.,Yeager M,Chung CC,Chanock SJ,Chatterjee N

更新日期：2012-05-04 00:00:00

abstract：:Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (COMP; OMIM 600310 [...

journal_title：American journal of human genetics

authors： Briggs MD,Mortier GR,Cole WG,King LM,Golik SS,Bonaventure J,Nuytinck L,De Paepe A,Leroy JG,Biesecker L,Lipson M,Wilcox WR,Lachman RS,Rimoin DL,Knowlton RG,Cohn DH

更新日期：1998-02-01 00:00:00

abstract：:The results of an empirical nucleotide-sequencing approach indicate that the evolution of the human mitochondrial noncoding D-loop is both more rapid and more complex than is revealed by standard phylogenetic approaches. The nucleotide sequence of the D-loop region of the mitochondrial genome was determined for 45 mem...

journal_title：American journal of human genetics

authors： Howell N,Kubacka I,Mackey DA

更新日期：1996-09-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants for many complex diseases; however, these variants explain only a small fraction of the heritability. Recently, genetic association studies that leverage external transcriptome data have received much attention and shown...

journal_title：American journal of human genetics

authors： Su YR,Di C,Bien S,Huang L,Dong X,Abecasis G,Berndt S,Bezieau S,Brenner H,Caan B,Casey G,Chang-Claude J,Chanock S,Chen S,Connolly C,Curtis K,Figueiredo J,Gala M,Gallinger S,Harrison T,Hoffmeister M,Hopper J,Huy

更新日期：2018-05-03 00:00:00

abstract：:Pc 1 Duarte is a mutant brain protein present in 32% of the normal human population with 2.6% being homozygous. Preliminary studies suggest an increased frequency of this mutation in individuals with affective disease. To determine if this mutant was present in primates, 32 fetal (wild)-born baboons were examined. All...

journal_title：American journal of human genetics

authors： Comings DE,Jalanko A,Kuehl TJ

更新日期：1981-01-01 00:00:00

abstract：:Complementary genetic and demographic analyses estimate the total proportion of European-American admixture in the Gila River Indian Community and trace its mode of entry. Among the 9,616 residents in the sample, 2,015 persons claim only partial Native American heritage. A procedure employing 23 alleles or haplotypes ...

journal_title：American journal of human genetics

authors： Williams RC,Knowler WC,Pettitt DJ,Long JC,Rokala DA,Polesky HF,Hackenberg RA,Steinberg AG,Bennett PH

更新日期：1992-07-01 00:00:00

abstract：:The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations ...

journal_title：American journal of human genetics

authors： Bennett RL,Steinhaus KA,Uhrich SB,O'Sullivan CK,Resta RG,Lochner-Doyle D,Markel DS,Vincent V,Hamanishi J

更新日期：1995-03-01 00:00:00

abstract：:A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity...

journal_title：American journal of human genetics

authors： Malmgren H,Sundvall M,Dahl N,Gustavson KH,Annerén G,Wadelius C,Steén-Bondeson ML,Pettersson U

更新日期：1993-06-01 00:00:00

abstract：:Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, t...

journal_title：American journal of human genetics

authors： Lim JS,Gopalappa R,Kim SH,Ramakrishna S,Lee M,Kim WI,Kim J,Park SM,Lee J,Oh JH,Kim HD,Park CH,Lee JS,Kim S,Kim DS,Han JM,Kang HC,Kim HH,Lee JH

更新日期：2017-03-02 00:00:00

abstract：:Although recent studies provide evidence for a common genetic basis between complex traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-specific manner remains elusive. Here, we have quantified the overlap of genes identified through large-scale genome-wide association studies (GW...

journal_title：American journal of human genetics

authors： Freund MK,Burch KS,Shi H,Mancuso N,Kichaev G,Garske KM,Pan DZ,Miao Z,Mohlke KL,Laakso M,Pajukanta P,Pasaniuc B,Arboleda VA

更新日期：2018-10-04 00:00:00