Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.

abstract：:Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein. Studies involving SMA patients and animal models expressing the human SMN2 gene have yielded relatively little information about the earliest cellular consequences of ...

journal_title：Human molecular genetics

authors： Kariya S,Park GH,Maeno-Hikichi Y,Leykekhman O,Lutz C,Arkovitz MS,Landmesser LT,Monani UR

更新日期：2008-08-15 00:00:00

abstract：:An association between the 19q13.2 chromosomal region and Alzheimer's disease (AD) has been reported in AD families and for sporadic AD. Recent observations provide evidence that the epsilon 4 allele of the apolipoprotein E gene (APOE), located in this region, is a risk factor for late-onset AD. Within this region, ot...

journal_title：Human molecular genetics

authors： Chartier-Harlin MC,Parfitt M,Legrain S,Pérez-Tur J,Brousseau T,Evans A,Berr C,Vidal O,Roques P,Gourlet V

更新日期：1994-04-01 00:00:00

abstract：:Manipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombinatio...

journal_title：Human molecular genetics

authors： Joubert R,Vignaud A,Le M,Moal C,Messaddeq N,Buj-Bello A

更新日期：2013-05-01 00:00:00

abstract：:Genome-wide association studies and, more recently, next-generation sequencing studies have accelerated the investigation of complex human traits by providing a wealth of association data linking genetic variants to diseases and other phenotypic traits. These data promise to transform our understanding of the molecula...

journal_title：Human molecular genetics

authors： Peters DT,Musunuru K

更新日期：2012-10-15 00:00:00

abstract：:Lipoprotein lipase (LPL) is a 448-amino-acid head-to-tail dimeric enzyme that hydrolyzes triglycerides within capillaries. LPL is secreted by parenchymal cells into the interstitial spaces; it then binds to GPIHBP1 (glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1) on the basolateral fa...

journal_title：Human molecular genetics

authors： Gin P,Goulbourne CN,Adeyo O,Beigneux AP,Davies BS,Tat S,Voss CV,Bensadoun A,Fong LG,Young SG

更新日期：2012-07-01 00:00:00

abstract：:Peroxisomes are vital eukaryotic organelles that participate in lipid metabolism, in particular the metabolism of very-long-chain fatty acids (VLCFA). The biogenesis of peroxisomes is regulated by a set of peroxin proteins (PEX). In humans, mutations affecting peroxin protein production or function result in devastati...

journal_title：Human molecular genetics

authors： Chen H,Liu Z,Huang X

更新日期：2010-02-01 00:00:00

abstract：:NPHP4 mutations cause nephronophthisis, an autosomal recessive cystic kidney disease associated with renal fibrosis and kidney failure. The NPHP4 gene product nephrocystin-4 interacts with other nephrocystins, cytoskeletal and ciliary proteins; however, the molecular and cellular functions of nephrocystin-4 have remai...

journal_title：Human molecular genetics

authors： Slanchev K,Pütz M,Schmitt A,Kramer-Zucker A,Walz G

更新日期：2011-08-15 00:00:00

abstract：:The effect of endogenous nitric oxide synthase (NOS) on cardiac contractility and architecture has been a matter of debate. A role for NOS in cardiac hypertrophy has recently been demonstrated by studies which have shown hypertrophic cardiomyopathy (HCM) with altered contractility in constitutive NOS (cNOS) knockout m...

journal_title：Human molecular genetics

authors： Ohsawa Y,Toko H,Katsura M,Morimoto K,Yamada H,Ichikawa Y,Murakami T,Ohkuma S,Komuro I,Sunada Y

更新日期：2004-01-15 00:00:00

abstract：:Costello syndrome (CS) is a developmental disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, mental retardation and skin and musculo-skeletal defects. CS is caused by HRAS germline mutations. In the majority of cases, mutations affect Gly(12) and Gly(13) and are associated with a ...

journal_title：Human molecular genetics

authors： Gremer L,De Luca A,Merbitz-Zahradnik T,Dallapiccola B,Morlot S,Tartaglia M,Kutsche K,Ahmadian MR,Rosenberger G

更新日期：2010-03-01 00:00:00

abstract：:The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retardation. Mutations in the gene for Delta(7)-dehydrocholesterol reductase (Delta(7)-re...

journal_title：Human molecular genetics

authors： Yu H,Lee MH,Starck L,Elias ER,Irons M,Salen G,Patel SB,Tint GS

更新日期：2000-05-22 00:00:00

abstract：:The ε4 allele of the APOE gene encoding apolipoprotein E (apoE) is a strong genetic risk factor for aging-related cognitive decline as well as late-onset Alzheimer's disease (AD) compared to the common ε3 allele. In the central nervous system, apoE is produced primarily by astrocytes and functions in transporting lipi...

journal_title：Human molecular genetics

authors： Zhao J,Davis MD,Martens YA,Shinohara M,Graff-Radford NR,Younkin SG,Wszolek ZK,Kanekiyo T,Bu G

更新日期：2017-07-15 00:00:00

abstract：:A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine ...

journal_title：Human molecular genetics

authors： Halford S,Wadey R,Roberts C,Daw SC,Whiting JA,O'Donnell H,Dunham I,Bentley D,Lindsay E,Baldini A

更新日期：1993-12-01 00:00:00

abstract：:Huntington's disease (HD) and myotonic dystrophy (DM1) are caused by trinucleotide repeat expansions. The repeats show different instability patterns according to the disorder, cell type and developmental stage. Here we studied the behavior of these repeats in DM1- and HD-derived human embryonic stem cells (hESCs) bef...

journal_title：Human molecular genetics

authors： Seriola A,Spits C,Simard JP,Hilven P,Haentjens P,Pearson CE,Sermon K

更新日期：2011-01-01 00:00:00

abstract：:Uniparental disomy (UPD) is defined as the inheritance of both homologs of a given genomic region from only one parent. The majority of UPD includes an entire chromosome. However, the extent of UPD is sometimes limited to a subchromosomal region (segmental UPD). Mosaic paternal UPD (pUPD) of chromosome 11 is found in ...

journal_title：Human molecular genetics

authors： Ohtsuka Y,Higashimoto K,Oka T,Yatsuki H,Jozaki K,Maeda T,Kawahara K,Hamasaki Y,Matsuo M,Nishioka K,Joh K,Mukai T,Soejima H

更新日期：2016-04-01 00:00:00

abstract：:Transposable elements (TEs) are major sources of new exons in higher eukaryotes. Almost half of the human genome is derived from TEs, and many types of TEs have the potential to exonize. In this work, we conducted a large-scale analysis of human exons derived from mammalian-wide interspersed repeats (MIRs), a class of...

journal_title：Human molecular genetics

authors： Lin L,Jiang P,Shen S,Sato S,Davidson BL,Xing Y

更新日期：2009-06-15 00:00:00

abstract：:Sarcoglycans are a group of single-pass transmembrane glycoproteins. In striated muscle, sarcoglycans interact with dystrophin and other dystrophin-associated proteins (DAPs) to form the dystrophin-associated glycoprotein complex (DGC). The DGC protects the sarcolemma from contraction-induced injury. Duchenne muscular...

journal_title：Human molecular genetics

authors： Li D,Long C,Yue Y,Duan D

更新日期：2009-04-01 00:00:00

abstract：:Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological manifestations. By means of Southern blotting and sequence analysis of TC II cDNA amplified fro...

journal_title：Human molecular genetics

authors： Li N,Rosenblatt DS,Kamen BA,Seetharam S,Seetharam B

更新日期：1994-10-01 00:00:00

abstract：:Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are two human autosomal dominant skeletal dysplasias characterized by variable short stature, joint laxity and early-onset degenerative joint disease. Both disorders can result from mut-ations in the gene for cartilage oligomeric matrix protein (COMP...

journal_title：Human molecular genetics

authors： Délot E,King LM,Briggs MD,Wilcox WR,Cohn DH

更新日期：1999-01-01 00:00:00

abstract：:The severe reduction in mRNA and protein levels of the mitochondrial protein frataxin, encoded by the X25 gene, causes Friedreich ataxia (FRDA), the most common form of recessive hereditary ataxia. Increasing evidence underlines the pathogenetic role of oxidative stress in this disease. We generated an in vitro cellul...

journal_title：Human molecular genetics

authors： Pianese L,Busino L,De Biase I,De Cristofaro T,Lo Casale MS,Giuliano P,Monticelli A,Turano M,Criscuolo C,Filla A,Varrone S,Cocozza S

更新日期：2002-11-01 00:00:00

abstract：:Genome editing to correct a defective β-globin gene or induce fetal globin (HbF) for patients with beta-hemoglobinopathies has the potential to be a curative strategy available to all. HbF reactivation has long been an area of intense interest given the HbF inhibition of sickle hemoglobin (HbS) polymerization. Patient...

journal_title：Human molecular genetics

authors： Demirci S,Leonard A,Tisdale JF

更新日期：2020-09-30 00:00:00

abstract：:Despite the clinical importance of human aneuploidy, we know little of the causes of mammalian non-disjunction. In part, this reflects the fact that, unlike lower organisms, segregation 'impaired' chromosomes are virtually non-existent in mammals. To address this issue, we have studied the mouse Y chromosome on the BA...

journal_title：Human molecular genetics

authors： Bean CJ,Hunt PA,Millie EA,Hassold TJ

更新日期：2001-04-15 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron gene (SMN1). In humans, two nearly identical copies of SMN exist and differ only by a single non-polymorphic C-->T nucleotide transition in exon 7. SMN1 contains a 'C' nucleotide at the +6 position of exon 7 and produces primari...

journal_title：Human molecular genetics

authors： DiDonato CJ,Lorson CL,De Repentigny Y,Simard L,Chartrand C,Androphy EJ,Kothary R

更新日期：2001-11-01 00:00:00

abstract：:What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing de...

journal_title：Human molecular genetics

authors： Kalatzis V,Petit C

更新日期：1998-01-01 00:00:00

abstract：:Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in ...

journal_title：Human molecular genetics

authors： Amiel J,Trochet D,Clément-Ziza M,Munnich A,Lyonnet S

更新日期：2004-10-01 00:00:00

abstract：:Selective loss of dopaminergic neurons is the final common pathway in Parkinson's disease. Expression of Parkin associated endothelin-receptor like receptor (Pael-R) in mouse brain was achieved by injecting adenoviral vectors carrying a modified neuron-specific promoter and Cre recombinase into the striatum. Upregulat...

journal_title：Human molecular genetics

authors： Kitao Y,Imai Y,Ozawa K,Kataoka A,Ikeda T,Soda M,Nakimawa K,Kiyama H,Stern DM,Hori O,Wakamatsu K,Ito S,Itohara S,Takahashi R,Ogawa S

更新日期：2007-01-01 00:00:00

abstract：:Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. Th...

journal_title：Human molecular genetics

authors： McGrath JA,Duijf PH,Doetsch V,Irvine AD,de Waal R,Vanmolkot KR,Wessagowit V,Kelly A,Atherton DJ,Griffiths WA,Orlow SJ,van Haeringen A,Ausems MG,Yang A,McKeon F,Bamshad MA,Brunner HG,Hamel BC,van Bokhoven H

更新日期：2001-02-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease characterized by the loss of motor neurons. Motor neuron degeneration is probably both a cell autonomous and a non-autonomous event. Therefore, manipulating the diseased microenvironment via non-neural cell replacement could be a th...

journal_title：Human molecular genetics

authors： Corti S,Nizzardo M,Nardini M,Donadoni C,Salani S,Simone C,Falcone M,Riboldi G,Govoni A,Bresolin N,Comi GP

更新日期：2010-10-01 00:00:00

abstract：:Cystic fibrosis (CF) is a multiorgan recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Gene therapy efforts have focused on treating the lung, since it manifests the most significant life-threatening disease. Over two decades have past since the first...

journal_title：Human molecular genetics

authors： Yan Z,McCray PB Jr,Engelhardt JF

更新日期：2019-10-01 00:00:00

abstract：:A randomization procedure to evaluate the significance level and the false-discovery rate in complex microarray experiments is proposed. A related graph can be used to compare different test statistics that can be used to analyze the same experiment. This graph is closely related to receiver operator characteristic (R...

journal_title：Human molecular genetics

authors： Kooperberg C,Sipione S,LeBlanc M,Strand AD,Cattaneo E,Olson JM

更新日期：2002-09-15 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified gen...

journal_title：Human molecular genetics

authors： Aldahmesh MA,Li Y,Alhashem A,Anazi S,Alkuraya H,Hashem M,Awaji AA,Sogaty S,Alkharashi A,Alzahrani S,Al Hazzaa SA,Xiong Y,Kong S,Sun Z,Alkuraya FS

更新日期：2014-06-15 00:00:00