Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

abstract：:The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a localization for the CLS...

journal_title：American journal of human genetics

authors： Biancalana V,Briard ML,David A,Gilgenkrantz S,Kaplan J,Mathieu M,Piussan C,Poncin J,Schinzel A,Oudet C

更新日期：1992-05-01 00:00:00

abstract：:Several spin-label electron paramagnetic resonance (EPR) studies of red cell membranes appear to show abnormalities in some Huntington disease (HD) patients, but not in others. Both studies measure the W/S ratios, presumably under similar conditions, but have different results. We have studied the W/S ratio in some de...

journal_title：American journal of human genetics

authors： Fung LW,Ostrowski MS

更新日期：1982-05-01 00:00:00

abstract：:It has been observed that multiple sulfatase deficiency disorder (MSDD) fibroblasts contained from profoundly deficient to near normal amounts of arylsulfatase (ARS) A depending on the medium in which they were cultured. Our present findings show that the major factor determining the enzyme level is the pH of the medi...

journal_title：American journal of human genetics

authors： Fluharty AL,Stevens RL,de la Flor SD,Shapiro LJ,Kihara H

更新日期：1979-09-01 00:00:00

abstract：:Disordered mitochondrial metabolism may play an important role in a number of idiopathic neurodegenerative disorders. The question of mitochondrial dysfunction is particularly attractive in the case of idiopathic Parkinson disease (PD), since Vyas et al. recognized in the 1980s that the parkinsonism-inducing compound ...

journal_title：American journal of human genetics

authors： Parker WD Jr,Swerdlow RH

更新日期：1998-04-01 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：:To test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide short tandem repeat (STR) polymorphisms in 243 Africans, Asians, and Europeans. An evolutionary tree based on mtDNA displays deep African branches, indicating grea...

journal_title：American journal of human genetics

authors： Jorde LB,Bamshad MJ,Watkins WS,Zenger R,Fraley AE,Krakowiak PA,Carpenter KD,Soodyall H,Jenkins T,Rogers AR

更新日期：1995-09-01 00:00:00

abstract：:mRNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene in tissues of cystic fibrosis (CF) patients has allowed us to detect a cryptic exon. The new exon involves 49 base pairs between exons 11 and 12 and is due to a point mutation (1811+1.6kbA-->G) that creates a new donor splice site in intron 11. S...

journal_title：American journal of human genetics

authors： Chillón M,Dörk T,Casals T,Giménez J,Fonknechten N,Will K,Ramos D,Nunes V,Estivill X

更新日期：1995-03-01 00:00:00

abstract：:The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

journal_title：American journal of human genetics

authors： Bodurtha J,Spence JE,Stevens CA

更新日期：1991-08-01 00:00:00

abstract：:The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this knowledge gap might point to new therapeutic targets for allergic disease. The aim of this study was to identify the target gene(s) and the functional variant(...

journal_title：American journal of human genetics

authors： Vicente CT,Edwards SL,Hillman KM,Kaufmann S,Mitchell H,Bain L,Glubb DM,Lee JS,French JD,Ferreira MA

更新日期：2015-08-06 00:00:00

abstract：:Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine...

journal_title：American journal of human genetics

authors： Saadi I,Alkuraya FS,Gisselbrecht SS,Goessling W,Cavallesco R,Turbe-Doan A,Petrin AL,Harris J,Siddiqui U,Grix AW Jr,Hove HD,Leboulch P,Glover TW,Morton CC,Richieri-Costa A,Murray JC,Erickson RP,Maas RL

更新日期：2011-07-15 00:00:00

abstract：:Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene ...

journal_title：American journal of human genetics

authors： Lahat H,Pras E,Olender T,Avidan N,Ben-Asher E,Man O,Levy-Nissenbaum E,Khoury A,Lorber A,Goldman B,Lancet D,Eldar M

更新日期：2001-12-01 00:00:00

abstract：:Otopalatodigital syndrome type 1 (OPD1) is an X-linked semidominant condition characterized by malformations of the skeleton, auditory apparatus, and palate. Previous studies have established linkage to a 16-cM region of Xq27-q28. A proposed allelic variant of OPD1, termed "OPD2," is associated with a more severe, fre...

journal_title：American journal of human genetics

authors： Robertson SP,Walsh S,Oldridge M,Gunn T,Becroft D,Wilkie AO

更新日期：2001-07-01 00:00:00

abstract：:We present a full-likelihood method to infer polygenic adaptation from DNA sequence variation and GWAS summary statistics to quantify recent transient directional selection acting on a complex trait. Through simulations of polygenic trait architecture evolution and GWASs, we show the method substantially improves powe...

journal_title：American journal of human genetics

authors： Stern AJ,Speidel L,Zaitlen NA,Nielsen R

更新日期：2021-01-08 00:00:00

abstract：:We have evaluated eight patients with pigmentary anomalies reminiscent of incontinentia pigmenti or hypomelanosis of Ito. All demonstrated abnormal lymphocyte karyotypes with chromosomal mosaicism in lymphocytes and/or skin fibroblasts. In seven the skin was darkly pigmented, and in all of these seven cases the abnorm...

journal_title：American journal of human genetics

authors： Thomas IT,Frias JL,Cantu ES,Lafer CZ,Flannery DB,Graham JG Jr

更新日期：1989-08-01 00:00:00

abstract：:Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human ...

journal_title：American journal of human genetics

authors： Paznekas WA,Boyadjiev SA,Shapiro RE,Daniels O,Wollnik B,Keegan CE,Innis JW,Dinulos MB,Christian C,Hannibal MC,Jabs EW

更新日期：2003-02-01 00:00:00

abstract：:The residual beta-D-galactosidase activity (10% of normal) present in an autopsy sample of liver derived from an I-cell patient has been characterized. The pH optima for both I-cell and normal acid 4-methylumbelliferyl beta-D-galactoside activities were 4.35. The adsorption and elution profiles of the I-cell enzyme fr...

journal_title：American journal of human genetics

authors： Holmes EW,Miller AL,Frost RG,O'Brien JS

更新日期：1975-11-01 00:00:00

abstract：:Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10(-5)) in 2871 additional cases and ...

journal_title：American journal of human genetics

authors： Bown MJ,Jones GT,Harrison SC,Wright BJ,Bumpstead S,Baas AF,Gretarsdottir S,Badger SA,Bradley DT,Burnand K,Child AH,Clough RE,Cockerill G,Hafez H,Scott DJ,Futers S,Johnson A,Sohrabi S,Smith A,Thompson MM,van Bockxm

更新日期：2011-11-11 00:00:00

abstract：:Haplotype analysis was conducted on the mutant allele of 14 unrelated subjects heterozygous for a mutation in the codon for amino acid 3500 of human apolipoprotein B100. This mutation is associated with defective binding of low-density lipoprotein to the low-density lipoprotein receptor and with moderate hypercholeste...

journal_title：American journal of human genetics

authors： Ludwig EH,McCarthy BJ

更新日期：1990-10-01 00:00:00

abstract：:The central challenges in tumor sequencing studies is to identify driver genes and pathways, investigate their functional relationships, and nominate drug targets. The efficiency of these analyses, particularly for infrequently mutated genes, is compromised when subjects carry different combinations of driver mutation...

journal_title：American journal of human genetics

authors： Hua X,Hyland PL,Huang J,Song L,Zhu B,Caporaso NE,Landi MT,Chatterjee N,Shi J

更新日期：2016-03-03 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

abstract：:Rheumatoid arthritis (RA) is an autoimmune/inflammatory disorder with a complex genetic component. We report the first major genomewide screen of multiplex families with RA gathered in the United States. The North American Rheumatoid Arthritis Consortium, using well-defined clinical criteria, has collected 257 familie...

journal_title：American journal of human genetics

authors： Jawaheer D,Seldin MF,Amos CI,Chen WV,Shigeta R,Monteiro J,Kern M,Criswell LA,Albani S,Nelson JL,Clegg DO,Pope R,Schroeder HW Jr,Bridges SL Jr,Pisetsky DS,Ward R,Kastner DL,Wilder RL,Pincus T,Callahan LF,Flemming D

更新日期：2001-04-01 00:00:00

abstract：:A reproducible and convenient method for assaying glucocerebrosidase activity using the natural substrates has been developed. From the insoluble pellet fraction of cultured skin fibroblast homogenates, released glucose was measured enzymically using hexokinase coupled with the glucose-6-phosphate dehydrogenase (G6PD)...

journal_title：American journal of human genetics

authors： Choy FY,Davidson RG

更新日期：1980-09-01 00:00:00

abstract：:DNA sequence polymorphisms have been used to determine the linear order and recombinational distances separating the Harvey ras 1 oncogene (c-Ha-ras-1), beta-globin, insulin, and parathyroid hormone genes on the short arm of human chromosome 11. Our results indicate that c-Ha-ras-1 is closely linked to both the beta-g...

journal_title：American journal of human genetics

authors： Fearon ER,Antonarakis SE,Meyers DA,Levine MA

更新日期：1984-03-01 00:00:00

abstract：:Obesity is an increasingly serious health problem in the world. Body mass index (BMI), percentage fat mass, and body fat mass are important indices of obesity. For a sample of pedigrees that contains >10,000 relative pairs (including 1,249 sib pairs) that are useful for linkage analyses, we performed a whole-genome li...

journal_title：American journal of human genetics

authors： Deng HW,Deng H,Liu YJ,Liu YZ,Xu FH,Shen H,Conway T,Li JL,Huang QY,Davies KM,Recker RR

更新日期：2002-05-01 00:00:00

abstract：:On the basis of the known amino acid sequence of statherin, a human salivary protein, mixed synthetic oligonucleotides were synthesized and used to screen a cDNA library constructed from human parotid-gland mRNA. A cDNA clone coding for statherin was isolated from this library and has been completely sequenced. The cD...

journal_title：American journal of human genetics

authors： Sabatini LM,Carlock LR,Johnson GW,Azen EA

更新日期：1987-12-01 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：:A genome scan of the hoarding phenotype (a component of obsessive-compulsive disorder) was conducted on 77 sib pairs collected by the Tourette Syndrome Association International Consortium for Genetics (TSAICG). All sib pairs were concordant for a diagnosis of Gilles de la Tourette syndrome (GTS). However, the analyse...

journal_title：American journal of human genetics

authors： Zhang H,Leckman JF,Pauls DL,Tsai CP,Kidd KK,Campos MR,Tourette Syndrome Association International Consortium for Genetics.

更新日期：2002-04-01 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：:Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We ...

journal_title：American journal of human genetics

authors： Stella A,Resta N,Gentile M,Susca F,Mareni C,Montera MP,Guanti G

更新日期：1993-11-01 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