Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency.

abstract：:Type IV (alpha 1 and alpha 2 chains) appears to be the only procollagen present in basement membranes. The structure of this protein is highly divergent from the interstitial and type V procollagens as exemplified by the interruptions in the Gly-X-Y region and unprocessed amino and carboxyl noncollagenous peptides. To...

journal_title：American journal of human genetics

authors： Emanuel BS,Sellinger BT,Gudas LJ,Myers JC

更新日期：1986-01-01 00:00:00

abstract：:We have developed a technique called "LSSP-PCR" (low-stringency single specific primer PCR) that detects single or multiple mutations in DNA. A purified DNA fragment is submitted to PCR by using a single primer specific for one of the extremities of the fragment, under conditions of very low stringency. The primer hyb...

journal_title：American journal of human genetics

authors： Barreto G,Vago AR,Ginther C,Simpson AJ,Pena SD

更新日期：1996-03-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there are discrepant SMA...

journal_title：American journal of human genetics

authors： Prior TW,Krainer AR,Hua Y,Swoboda KJ,Snyder PC,Bridgeman SJ,Burghes AH,Kissel JT

更新日期：2009-09-01 00:00:00

abstract：:Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...

journal_title：American journal of human genetics

authors： Goodman FR,Majewski F,Collins AL,Scambler PJ

更新日期：2002-02-01 00:00:00

abstract：:In a large public urban hospital obstetrics service with > 123,000 deliveries in a 10-year period (1980-89), the frequencies (0.12%) of any type of chromosomal abnormality and of trisomy syndromes were analyzed for maternal age-related risk, by logistic regression. Focusing on very young gravidas, we found that in the...

journal_title：American journal of human genetics

authors： Little BB,Ramin SM,Cambridge BS,Schneider NR,Cohen DS,Snell LM,Harrod MJ,Johnston WL

更新日期：1995-11-01 00:00:00

abstract：:We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched con...

journal_title：American journal of human genetics

authors： Sanna-Cherchi S,Kiryluk K,Burgess KE,Bodria M,Sampson MG,Hadley D,Nees SN,Verbitsky M,Perry BJ,Sterken R,Lozanovski VJ,Materna-Kiryluk A,Barlassina C,Kini A,Corbani V,Carrea A,Somenzi D,Murtas C,Ristoska-Bojkovska N,

更新日期：2012-12-07 00:00:00

abstract：:Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower ...

journal_title：American journal of human genetics

authors： Wallmeier J,Shiratori H,Dougherty GW,Edelbusch C,Hjeij R,Loges NT,Menchen T,Olbrich H,Pennekamp P,Raidt J,Werner C,Minegishi K,Shinohara K,Asai Y,Takaoka K,Lee C,Griese M,Memari Y,Durbin R,Kolb-Kokocinski A,Sauer

更新日期：2016-08-04 00:00:00

abstract：:Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a ...

journal_title：American journal of human genetics

authors： Vargas-Poussou R,Feldmann D,Vollmer M,Konrad M,Kelly L,van den Heuvel LP,Tebourbi L,Brandis M,Karolyi L,Hebert SC,Lemmink HH,Deschênes G,Hildebrandt F,Seyberth HW,Guay-Woodford LM,Knoers NV,Antignac C

更新日期：1998-06-01 00:00:00

abstract：:Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI ...

journal_title：American journal of human genetics

authors： Carmignac V,Thevenon J,Adès L,Callewaert B,Julia S,Thauvin-Robinet C,Gueneau L,Courcet JB,Lopez E,Holman K,Renard M,Plauchu H,Plessis G,De Backer J,Child A,Arno G,Duplomb L,Callier P,Aral B,Vabres P,Gigot N,Arbu

更新日期：2012-11-02 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：:Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tes...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Sutera CJ,Walden M,Kozyra A

更新日期：1991-03-01 00:00:00

abstract：:The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant ...

journal_title：American journal of human genetics

authors： Bruder CE,Piotrowski A,Gijsbers AA,Andersson R,Erickson S,Diaz de Ståhl T,Menzel U,Sandgren J,von Tell D,Poplawski A,Crowley M,Crasto C,Partridge EC,Tiwari H,Allison DB,Komorowski J,van Ommen GJ,Boomsma DI,Pedersen NL

更新日期：2008-03-01 00:00:00

abstract：:Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cyto...

journal_title：American journal of human genetics

authors： Picard C,Fieschi C,Altare F,Al-Jumaah S,Al-Hajjar S,Feinberg J,Dupuis S,Soudais C,Al-Mohsen IZ,Génin E,Lammas D,Kumararatne DS,Leclerc T,Rafii A,Frayha H,Murugasu B,Wah LB,Sinniah R,Loubser M,Okamoto E,Al-Ghonaium

更新日期：2002-02-01 00:00:00

abstract：:The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/...

journal_title：American journal of human genetics

authors： McDermid HE,Morrow BE

更新日期：2002-05-01 00:00:00

abstract：:Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers. Several of the VNTR markers isolated in those experiments were sequenced, and a DNA sequence of 9 bp (GNNGTGGG) emerged as an apparent consensus sequence for VNTR markers. To confirm this result and to develo...

journal_title：American journal of human genetics

authors： Nakamura Y,Carlson M,Krapcho K,Kanamori M,White R

更新日期：1988-12-01 00:00:00

abstract：:Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic tes...

journal_title：American journal of human genetics

authors： Martin CA,Sarlós K,Logan CV,Thakur RS,Parry DA,Bizard AH,Leitch A,Cleal L,Ali NS,Al-Owain MA,Allen W,Altmüller J,Aza-Carmona M,Barakat BAY,Barraza-García J,Begtrup A,Bogliolo M,Cho MT,Cruz-Rojo J,Dhahrabi HAM,Elci

更新日期：2018-08-02 00:00:00

abstract：:Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used s...

journal_title：American journal of human genetics

authors： Jenne DE,Tinschert S,Reimann H,Lasinger W,Thiel G,Hameister H,Kehrer-Sawatzki H

更新日期：2001-09-01 00:00:00

abstract：:We consider sequential sampling of pedigrees for genetic analysis. Cannings and Thompson (1977) gave simple, general guidelines for valid sequential sampling schemes. We show that their formulation of the likelihood contains an error, which is, however, easily corrected so as to maintain the validity of the sequential...

journal_title：American journal of human genetics

authors： Hodge SE,Boehnke M

更新日期：1986-08-01 00:00:00

abstract：:Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectu...

journal_title：American journal of human genetics

authors： Bennett JT,Tan TY,Alcantara D,Tétrault M,Timms AE,Jensen D,Collins S,Nowaczyk MJM,Lindhurst MJ,Christensen KM,Braddock SR,Brandling-Bennett H,Hennekam RCM,Chung B,Lehman A,Su J,Ng S,Amor DJ,University of Washington Ce

更新日期：2016-03-03 00:00:00

abstract：:We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) studies that use high-throughput single-nucleotide-polymorphism (SNP) genotyping microarrays. We first describe a theoretical framework for establishing the effectivenes...

journal_title：American journal of human genetics

authors： Pearson JV,Huentelman MJ,Halperin RF,Tembe WD,Melquist S,Homer N,Brun M,Szelinger S,Coon KD,Zismann VL,Webster JA,Beach T,Sando SB,Aasly JO,Heun R,Jessen F,Kolsch H,Tsolaki M,Daniilidou M,Reiman EM,Papassotiropoul

更新日期：2007-01-01 00:00:00

abstract：:HLA class II loci are useful markers in human population genetics, because they are extremely variable and because new molecular techniques allow large-scale analysis of DNA allele frequencies. Direct DNA typing by hybridization with sequence-specific oligonucleotide probes (HLA oligotyping) after enzymatic in vitro P...

journal_title：American journal of human genetics

authors： Tiercy JM,Sanchez-Mazas A,Excoffier L,Shi-Isaac X,Jeannet M,Mach B,Langaney A

更新日期：1992-09-01 00:00:00

abstract：:Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this...

journal_title：American journal of human genetics

authors： Fabre A,Charroux B,Martinez-Vinson C,Roquelaure B,Odul E,Sayar E,Smith H,Colomb V,Andre N,Hugot JP,Goulet O,Lacoste C,Sarles J,Royet J,Levy N,Badens C

更新日期：2012-04-06 00:00:00

abstract：:Results of autism linkage studies have been difficult to interpret across research groups, prompting the use of ever-increasing sample sizes to increase power. However, increasing sample size by pooling disparate collections for a single analysis may, in fact, not increase power in the face of genetic heterogeneity. H...

journal_title：American journal of human genetics

authors： Bartlett CW,Goedken R,Vieland VJ

更新日期：2005-04-01 00:00:00

abstract：:Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a marked decrease in systolic blood pressure, an increase in diastolic pressure, and tachycardia, all of which resolve when s...

journal_title：American journal of human genetics

authors： DeStefano AL,Baldwin CT,Burzstyn M,Gavras I,Handy DE,Joost O,Martel T,Nicolaou M,Schwartz F,Streeten DH,Farrer LA,Gavras H

更新日期：1998-11-01 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：:We screened DNA from unrelated individuals for RFLPs in the muscle nicotinic acetylcholine receptor (AcChoR) genes. These RFLP markers can be used for genetic linkage and association studies to test the hypothesis that receptor structure or regulation is involved in the development of myasthenia gravis (MG). The cDNAs...

journal_title：American journal of human genetics

authors： Lobos EA,Rudnick CH,Watson MS,Isenberg KE

更新日期：1989-04-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease (PMD) is an X-linked, dysmyelinating disorder of the CNS. Duplications of the proteolipid protein (PLP) gene have been found in a proportion of patients, suggesting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause PMD. We show that the duplicati...

journal_title：American journal of human genetics

authors： Woodward K,Kendall E,Vetrie D,Malcolm S

更新日期：1998-07-01 00:00:00

abstract：:We have constructed a primary genetic map spanning most of human chromosome 13. A total of 14 polymorphic DNA sequences and one protein polymorphism provided, after construction of haplotypes, seven markers for the long arm of this chromosome. A panel of cell lines from 30 three-generation families with large sibship ...

journal_title：American journal of human genetics

authors： Leppert M,Cavenee W,Callahan P,Holm T,O'Connell P,Thompson K,Lathrop GM,Lalouel JM,White R

更新日期：1986-10-01 00:00:00

abstract：:The 5' flanking polymorphism (5'FP), a hypervariable region at the 5' end of the insulin gene, has "class 1" alleles (650-900 bp long) that are in positive linkage disequilibrium with insulin-dependent diabetes mellitus (IDDM). We report that precise sizing of the 5'FP yields a bimodal frequency distribution of class ...

journal_title：American journal of human genetics

authors： McGinnis RE,Spielman RS

更新日期：1994-09-01 00:00:00

abstract：:Natural selection is a significant force that shapes the architecture of the human genome and introduces diversity across global populations. The question of whether advantageous mutations have arisen in the human genome as a result of single or multiple mutation events remains unanswered except for the fact that ther...

journal_title：American journal of human genetics

authors： Liu X,Ong RT,Pillai EN,Elzein AM,Small KS,Clark TG,Kwiatkowski DP,Teo YY

更新日期：2013-06-06 00:00:00