abstract：:Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibr...

journal_title：American journal of human genetics

authors： Klar J,Schweiger M,Zimmerman R,Zechner R,Li H,Törmä H,Vahlquist A,Bouadjar B,Dahl N,Fischer J

更新日期：2009-08-01 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：:A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromob...

journal_title：American journal of human genetics

authors： Biason-Lauber A,Konrad D,Meyer M,DeBeaufort C,Schoenle EJ

更新日期：2009-05-01 00:00:00

abstract：:The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks (DSBs). Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively...

journal_title：American journal of human genetics

authors： Waltes R,Kalb R,Gatei M,Kijas AW,Stumm M,Sobeck A,Wieland B,Varon R,Lerenthal Y,Lavin MF,Schindler D,Dörk T

更新日期：2009-05-01 00:00:00

abstract：:Studying genomic patterns of human population structure provides important insights into human evolutionary history and the relationship among populations, and it has significant practical implications for disease-gene mapping. Here we describe a principal component (PC)-based approach to studying intracontinental pop...

journal_title：American journal of human genetics

authors： Biswas S,Scheinfeldt LB,Akey JM

更新日期：2009-05-01 00:00:00

abstract：:A current approach to mapping complex-disease-susceptibility loci in genome-wide association (GWA) studies involves leveraging the information in a reference database of dense genotype data. By modeling the patterns of linkage disequilibrium in a reference panel, genotypes not directly measured in the study samples ca...

journal_title：American journal of human genetics

authors： Huang L,Li Y,Singleton AB,Hardy JA,Abecasis G,Rosenberg NA,Scheet P

更新日期：2009-02-01 00:00:00

abstract：:Copy number variants (CNVs) contribute to human genetic and phenotypic diversity. However, the distribution of larger CNVs in the general population remains largely unexplored. We identify large variants in approximately 2500 individuals by using Illumina SNP data, with an emphasis on "hotspots" prone to recurrent mut...

journal_title：American journal of human genetics

authors： Itsara A,Cooper GM,Baker C,Girirajan S,Li J,Absher D,Krauss RM,Myers RM,Ridker PM,Chasman DI,Mefford H,Ying P,Nickerson DA,Eichler EE

更新日期：2009-02-01 00:00:00

abstract：:Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. Variable features include retinal dystrophy, cystic kidney disease, and liver fibrosis. JSRD ...

journal_title：American journal of human genetics

authors： Gorden NT,Arts HH,Parisi MA,Coene KL,Letteboer SJ,van Beersum SE,Mans DA,Hikida A,Eckert M,Knutzen D,Alswaid AF,Ozyurek H,Dibooglu S,Otto EA,Liu Y,Davis EE,Hutter CM,Bammler TK,Farin FM,Dorschner M,Topçu M,Zacka

更新日期：2008-11-01 00:00:00

abstract：:Genetic-dissection studies carried out with Down syndrome (DS) murine models point to the critical contribution of Dyrk1A overexpression to the motor abnormalities and cognitive deficits displayed in DS individuals. In the present study we have used a murine model overexpressing Dyrk1A (TgDyrk1A mice) to evaluate whet...

journal_title：American journal of human genetics

authors： Ortiz-Abalia J,Sahún I,Altafaj X,Andreu N,Estivill X,Dierssen M,Fillat C

更新日期：2008-10-01 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：:Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of human ARHI as revealed by heritability studies, to date, its precise genetic determinants remain elusive. Here we report the results of a cross-...

journal_title：American journal of human genetics

authors： Huyghe JR,Van Laer L,Hendrickx JJ,Fransen E,Demeester K,Topsakal V,Kunst S,Manninen M,Jensen M,Bonaconsa A,Mazzoli M,Baur M,Hannula S,Mäki-Torkko E,Espeso A,Van Eyken E,Flaquer A,Becker C,Stephens D,Sorri M,Orzan

更新日期：2008-09-01 00:00:00

abstract：:We describe a maternally transmitted genomic-imprinting syndrome of mental retardation, hypotonia, and unique dysmorphism with elongated face. We mapped the disease-associated locus to approximately 7.27 Mb on chromosome 8q24 and demonstrated that the disease is caused by a missense mutation in the maternal copy of KC...

journal_title：American journal of human genetics

authors： Barel O,Shalev SA,Ofir R,Cohen A,Zlotogora J,Shorer Z,Mazor G,Finer G,Khateeb S,Zilberberg N,Birk OS

更新日期：2008-08-01 00:00:00

abstract：:Low serum HDL-cholesterol (HDL-C) is a major risk factor for coronary artery disease. We performed targeted genotyping of a 12.4 Mb linked region on 16q to test for association with low HDL-C by using a regional-tag SNP strategy. We identified one SNP, rs2548861, in the WW-domain-containing oxidoreductase (WWOX) gene ...

journal_title：American journal of human genetics

authors： Lee JC,Weissglas-Volkov D,Kyttälä M,Dastani Z,Cantor RM,Sobel EM,Plaisier CL,Engert JC,van Greevenbroek MM,Kane JP,Malloy MJ,Pullinger CR,Huertas-Vazquez A,Aguilar-Salinas CA,Tusie-Luna T,de Bruin TW,Aouizerat BE,van de

更新日期：2008-08-01 00:00:00

abstract：:ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

journal_title：American journal of human genetics

authors： Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

更新日期：2008-07-01 00:00:00

abstract：:Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural tube defects (NTDs). Recent findings have shown primary cilia dysfunction in the molecular background of MKS, indicating...

journal_title：American journal of human genetics

authors： Tallila J,Jakkula E,Peltonen L,Salonen R,Kestilä M

更新日期：2008-06-01 00:00:00

abstract：:Thyroid-stimulating hormone (TSH) controls thyroid growth and hormone secretion through binding to its G protein-coupled receptor (TSHR) and production of cyclic AMP (cAMP). Serum TSH is a sensitive indicator of thyroid function, and overt abnormalities in thyroid function lead to common endocrine disorders affecting ...

journal_title：American journal of human genetics

authors： Arnaud-Lopez L,Usala G,Ceresini G,Mitchell BD,Pilia MG,Piras MG,Sestu N,Maschio A,Busonero F,Albai G,Dei M,Lai S,Mulas A,Crisponi L,Tanaka T,Bandinelli S,Guralnik JM,Loi A,Balaci L,Sole G,Prinzis A,Mariotti S,

更新日期：2008-06-01 00:00:00

abstract：:Lumbar-disc herniation (LDH), one of the most common musculoskeletal diseases, has strong genetic determinants. Recently, several genes that encode extracellular matrix (ECM) proteins in the intervertebral disc have been reported to associate with LDH. Thrombospondins (THBSs) 1 and 2 are good candidates for the LDH su...

journal_title：American journal of human genetics

authors： Hirose Y,Chiba K,Karasugi T,Nakajima M,Kawaguchi Y,Mikami Y,Furuichi T,Mio F,Miyake A,Miyamoto T,Ozaki K,Takahashi A,Mizuta H,Kubo T,Kimura T,Tanaka T,Toyama Y,Ikegawa S

更新日期：2008-05-01 00:00:00

abstract：:The two main phenotypes of inflammatory bowel disease (IBD)--Crohn's disease (CD) and ulcerative colitis (UC)--are chronic intestinal inflammatory disorders with a complex genetic background. Using a three-stage design, we performed a functional candidate-gene analysis of innate immune pathway in IBD. In phase I, we t...

journal_title：American journal of human genetics

authors： Zhernakova A,Festen EM,Franke L,Trynka G,van Diemen CC,Monsuur AJ,Bevova M,Nijmeijer RM,van 't Slot R,Heijmans R,Boezen HM,van Heel DA,van Bodegraven AA,Stokkers PC,Wijmenga C,Crusius JB,Weersma RK

更新日期：2008-05-01 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：:The elucidation of the largely unknown transcriptome of small RNAs is crucial for the understanding of genome and cellular function. We report here the results of the analysis of small RNAs (< 50 nt) in the ENCODE regions of the human genome. Size-fractionated RNAs from four different cell lines (HepG2, HelaS3, GM0699...

journal_title：American journal of human genetics

authors： Borel C,Gagnebin M,Gehrig C,Kriventseva EV,Zdobnov EM,Antonarakis SE

更新日期：2008-04-01 00:00:00

abstract：:The identification of genes associated with hereditary disorders has contributed to improving medical care and to a better understanding of gene functions, interactions, and pathways. However, there are well over 1500 Mendelian disorders whose molecular basis remains unknown. At present, methods such as linkage analys...

journal_title：American journal of human genetics

authors： Köhler S,Bauer S,Horn D,Robinson PN

更新日期：2008-04-01 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：:Predictive genomic profiling used to produce personalized nutrition and other lifestyle health recommendations is currently offered directly to consumers. By examining previous meta-analyses and HuGE reviews, we assessed the scientific evidence supporting the purported gene-disease associations for genes included in g...

journal_title：American journal of human genetics

authors： Janssens AC,Gwinn M,Bradley LA,Oostra BA,van Duijn CM,Khoury MJ

更新日期：2008-03-01 00:00:00

abstract：:Parkinson disease (PD) is a common neurodegenerative disorder caused by environmental and genetic factors. We have previously shown linkage of PD to chromosome 8p. Subsequently, fibroblast growth factor 20 (FGF20) at 8p21.3-22 was identified as a risk factor in several association studies. To identify the risk-conferr...

journal_title：American journal of human genetics

authors： Wang G,van der Walt JM,Mayhew G,Li YJ,Züchner S,Scott WK,Martin ER,Vance JM

更新日期：2008-02-01 00:00:00

abstract：:Supernumerary marker chromosomes (SMCs) are common, but their molecular content and mechanism of origin are often not precisely characterized. We analyzed all centromere regions to identify the junction between the unique chromosome arm and the pericentromeric repeats. A molecular-ruler clone panel for each chromosome...

journal_title：American journal of human genetics

authors： Baldwin EL,May LF,Justice AN,Martin CL,Ledbetter DH

更新日期：2008-02-01 00:00:00

abstract：:Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomer...

journal_title：American journal of human genetics

authors： Savage SA,Giri N,Baerlocher GM,Orr N,Lansdorp PM,Alter BP

更新日期：2008-02-01 00:00:00

abstract：:An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, trackin...

journal_title：American journal of human genetics

authors： Spady TC,Ostrander EA

更新日期：2008-01-01 00:00:00

abstract：:Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosyn...

journal_title：American journal of human genetics

authors： Robert-Richard E,Moreau-Gaudry F,Lalanne M,Lamrissi-Garcia I,Cario-André M,Guyonnet-Dupérat V,Taine L,Ged C,de Verneuil H

更新日期：2008-01-01 00:00:00

abstract：:Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3. In the first, with ka...

journal_title：American journal of human genetics

authors： Kim HG,Kishikawa S,Higgins AW,Seong IS,Donovan DJ,Shen Y,Lally E,Weiss LA,Najm J,Kutsche K,Descartes M,Holt L,Braddock S,Troxell R,Kaplan L,Volkmar F,Klin A,Tsatsanis K,Harris DJ,Noens I,Pauls DL,Daly MJ,MacDo

更新日期：2008-01-01 00:00:00

abstract：:Approximately 5% of patients with neurofibromatosis type 1 (NF1) exhibit gross deletions that encompass the NF1 gene and its flanking regions. The breakpoints of the common 1.4-Mb (type 1) deletions are located within low-copy repeats (NF1-REPs) and cluster within a 3.4-kb hotspot of nonallelic homologous recombinatio...

journal_title：American journal of human genetics

authors： Steinmann K,Cooper DN,Kluwe L,Chuzhanova NA,Senger C,Serra E,Lazaro C,Gilaberte M,Wimmer K,Mautner VF,Kehrer-Sawatzki H

更新日期：2007-12-01 00:00:00

abstract：:Congenital heart defects (CHDs) are among the most common birth defects in humans (incidence 8-10 per 1,000 live births). Although their etiology is often poorly understood, most are considered to arise from multifactorial influences, including environmental and genetic components, as well as from less common syndromi...

journal_title：American journal of human genetics

authors： Karkera JD,Lee JS,Roessler E,Banerjee-Basu S,Ouspenskaia MV,Mez J,Goldmuntz E,Bowers P,Towbin J,Belmont JW,Baxevanis AD,Schier AF,Muenke M

更新日期：2007-11-01 00:00:00

abstract：:Height has been used for more than a century as a model by which to understand quantitative genetic variation in humans. We report that the entire genome appears to contribute to its additive genetic variance. We used genotypes and phenotypes of 11,214 sibling pairs from three countries to partition additive genetic v...

journal_title：American journal of human genetics

authors： Visscher PM,Macgregor S,Benyamin B,Zhu G,Gordon S,Medland S,Hill WG,Hottenga JJ,Willemsen G,Boomsma DI,Liu YZ,Deng HW,Montgomery GW,Martin NG

更新日期：2007-11-01 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 ADH1B Arg47His polymorphism has been convincingly associated with alcoholism in numerous studies of several populations in Asia and Europe. In a review of literature from the past 30 years, we have identified studies that report allele frequencies of this polymorphism for 131 population samples from many different...

journal_title：American journal of human genetics

authors： Li H,Mukherjee N,Soundararajan U,Tarnok Z,Barta C,Khaliq S,Mohyuddin A,Kajuna SL,Mehdi SQ,Kidd JR,Kidd KK

更新日期：2007-10-01 00:00:00

abstract：:Cisplatin, a platinating agent commonly used to treat several cancers, is associated with nephrotoxicity, neurotoxicity, and ototoxicity, which has hindered its utility. To gain a better understanding of the genetic variants associated with cisplatin-induced toxicity, we present a stepwise approach integrating genotyp...

journal_title：American journal of human genetics

authors： Huang RS,Duan S,Shukla SJ,Kistner EO,Clark TA,Chen TX,Schweitzer AC,Blume JE,Dolan ME

更新日期：2007-09-01 00:00:00

abstract：:We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients invariably develop sens...

journal_title：American journal of human genetics

authors： Kim HJ,Sohn KM,Shy ME,Krajewski KM,Hwang M,Park JH,Jang SY,Won HH,Choi BO,Hong SH,Kim BJ,Suh YL,Ki CS,Lee SY,Kim SH,Kim JW

更新日期：2007-09-01 00:00:00

abstract：:Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...

journal_title：American journal of human genetics

authors： Liu J,Liu Y,Liu X,Deng HW

更新日期：2007-08-01 00:00:00

abstract：:Animal microRNAs (miRNAs) regulate gene expression through base pairing to their targets within the 3' untranslated region (UTR) of protein-coding genes. Single-nucleotide polymorphisms (SNPs) located within such target sites can affect miRNA regulation. We mapped annotated SNPs onto a collection of experimentally sup...

journal_title：American journal of human genetics

authors： Sethupathy P,Borel C,Gagnebin M,Grant GR,Deutsch S,Elton TS,Hatzigeorgiou AG,Antonarakis SE

更新日期：2007-08-01 00:00:00

abstract：:Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that is conducted in a recently isolated population from the southwestern area of The Netherlands. All...

journal_title：American journal of human genetics

authors： Liu F,Arias-Vásquez A,Sleegers K,Aulchenko YS,Kayser M,Sanchez-Juan P,Feng BJ,Bertoli-Avella AM,van Swieten J,Axenovich TI,Heutink P,van Broeckhoven C,Oostra BA,van Duijn CM

更新日期：2007-07-01 00:00:00

abstract：:The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially considered to be a distinct genetic entity, with clinical presentation similar to that of other...

journal_title：American journal of human genetics

authors： Siintola E,Topcu M,Aula N,Lohi H,Minassian BA,Paterson AD,Liu XQ,Wilson C,Lahtinen U,Anttonen AK,Lehesjoki AE

更新日期：2007-07-01 00:00:00