当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.

Abstract：

:Forty-nine individuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the cri-du-chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing the deleted chromosome 5 were derived from each patient. Each somatic cell hybrid was analyzed at the DNA level using 136 chromosome 5p-specific DNA fragments. It was possible to unambiguously order most of the chromosomal breakpoints present in the somatic cell hybrids based on the hybridization patterns of Southern blots. Further comparisons between the deletions present in the patients and their clinical features identified several chromosomal regions that were involved in specific clinical features. A critical chromosomal region involved the high-pitched cry mapped to 5p15.3, while the chromosomal region involved in the remaining features of the cri-du-chat syndrome mapped to a small region within 5p15.2. Deletions that did not include these two chromosomal regions presented varying clinical phenotypes from severe mental retardation and microcephaly to a clinically normal phenotype. These results demonstrate the need for careful characterization of a 5p deletion in prenatal cases before clinical predictions are made.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Overhauser J,Huang X,Gersh M,Wilson W,McMahon J,Bengtsson U,Rojas K,Meyer M,Wasmuth JJ

doi

10.1093/hmg/3.2.247

subject

Has Abstract

pub_date

1994-02-01 00:00:00

pages

247-52

issue

2

eissn

0964-6906

issn

1460-2083

journal_volume

3

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Intramuscular injection of a plasmid vector expressing human apolipoprotein E limits progression of xanthoma and aortic atheroma in apoE-deficient mice.

    abstract：:Apolipoprotein-E (apoE) protects against coronary artery disease via hepatic removal of atherogenic remnant lipoproteins, sequestration of cholesterol from vessel walls and local anti-oxidant, anti-platelet and anti-inflammatory actions. ApoE gene transfer may thus ameliorate a hyperlipidaemic profile and have benefic...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.17.2545

    authors： Athanasopoulos T,Owen JS,Hassall D,Dunckley MG,Drew J,Goodman J,Tagalakis AD,Riddell DR,Dickson G

    更新日期：2000-10-12 00:00:00

  • Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

    abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene methyl-CpG binding-protein 2 (MECP2). RTT becomes manifest after a period of apparently normal development and causes growth deceleration, severe psychomotor impairment and ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq563

    authors： Ricciardi S,Boggio EM,Grosso S,Lonetti G,Forlani G,Stefanelli G,Calcagno E,Morello N,Landsberger N,Biffo S,Pizzorusso T,Giustetto M,Broccoli V

    更新日期：2011-03-15 00:00:00

  • LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6.

    abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds342

    authors： Berwick DC,Harvey K

    更新日期：2012-11-15 00:00:00

  • Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.

    abstract：:Mutations in the DKC1 gene are responsible for causing the bone marrow failure syndrome, dyskeratosis congenita (DKC; OMIM 305000). The majority of mutations identified to date are missense mutations and are clustered in exons 3, 4 and 11. It is predicted that the corresponding protein dyskerin is a nucleolar phosphop...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.13.2515

    authors： Heiss NS,Girod A,Salowsky R,Wiemann S,Pepperkok R,Poustka A

    更新日期：1999-12-01 00:00:00

  • A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.

    abstract：:Blood levels of adiponectin, an adipocyte-secreted protein correlated with metabolic and cardiovascular risks, are highly heritable. Genome-wide association (GWA) studies for adiponectin levels have identified 14 loci harboring variants associated with blood levels of adiponectin. To identify novel adiponectin-associa...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,meta分析

    doi：10.1093/hmg/ddt488

    authors： Wu Y,Gao H,Li H,Tabara Y,Nakatochi M,Chiu YF,Park EJ,Wen W,Adair LS,Borja JB,Cai Q,Chang YC,Chen P,Croteau-Chonka DC,Fogarty MP,Gan W,He CT,Hsiung CA,Hwu CM,Ichihara S,Igase M,Jo J,Kato N,Kawamoto R,Kuzawa

    更新日期：2014-02-15 00:00:00

  • A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.

    abstract：:We present the analysis of a prospective multicentre study to investigate genetic effects on the prognosis of newly treated epilepsy. Patients with a new clinical diagnosis of epilepsy requiring medication were recruited and followed up prospectively. The clinical outcome was defined as freedom from seizures for a min...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1093/hmg/ddt403

    authors： Speed D,Hoggart C,Petrovski S,Tachmazidou I,Coffey A,Jorgensen A,Eleftherohorinou H,De Iorio M,Todaro M,De T,Smith D,Smith PE,Jackson M,Cooper P,Kellett M,Howell S,Newton M,Yerra R,Tan M,French C,Reuber M,Sills

    更新日期：2014-01-01 00:00:00

  • Multidimensional genome scans identify the combinations of genetic loci linked to diabetes-related phenotypes in mice.

    abstract：:Most quantitative trait loci (QTL) studies have focused on detecting the genetic effects of individual QTLs. This study thoroughly dissected the genetic components of type 2 diabetic mice, including a search for epistatic interactions and multi-locus additive effects that result in variation in diabetes-related phenot...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi433

    authors： Togawa K,Moritani M,Yaguchi H,Itakura M

    更新日期：2006-01-01 00:00:00

  • A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.

    abstract：:Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyosiform erythroderma), is an autosomal dominant human skin disorder. Recently, we and others have described mutations in keratins 1 and 10 (K1 and K10) in patients with this disease. Structure-function models predict that these mutations would impair normal...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/2.12.2147

    authors： Rothnagel JA,Fisher MP,Axtell SM,Pittelkow MR,Anton-Lamprecht I,Huber M,Hohl D,Roop DR

    更新日期：1993-12-01 00:00:00

  • Skeletal muscle repair in a mouse model of nemaline myopathy.

    abstract：:Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment is available. Although a number of genes have been identified in which mutations can cause NM, the pathogenetic mechanisms leading to the phenotypes are poorly unders...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl186

    authors： Sanoudou D,Corbett MA,Han M,Ghoddusi M,Nguyen MA,Vlahovich N,Hardeman EC,Beggs AH

    更新日期：2006-09-01 00:00:00

  • Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.

    abstract：:Differential allelic expression has been shown to be common in mice, humans and maize, and variability in the expression of polymorphic alleles has been associated with human disease. Here, we describe the differential expression pattern of Paraoxonase-1, a gene involved in lipid metabolism and implicated in the forma...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn222

    authors： Parker-Katiraee L,Bousiaki E,Monk D,Moore GE,Nakabayashi K,Scherer SW

    更新日期：2008-11-01 00:00:00

  • Disruption of the neurexin 1 gene is associated with schizophrenia.

    abstract：:Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and NRXN3 genes, for copy number variants (CNVs) in 2977 schizophrenia patients and 33 746 controls from seven European popula...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn351

    authors： Rujescu D,Ingason A,Cichon S,Pietiläinen OP,Barnes MR,Toulopoulou T,Picchioni M,Vassos E,Ettinger U,Bramon E,Murray R,Ruggeri M,Tosato S,Bonetto C,Steinberg S,Sigurdsson E,Sigmundsson T,Petursson H,Gylfason A,Olason

    更新日期：2009-03-01 00:00:00

  • Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

    abstract：:Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethylation, identifying these changes is important in understanding v...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt365

    authors： Connelly JJ,Cherepanova OA,Doss JF,Karaoli T,Lillard TS,Markunas CA,Nelson S,Wang T,Ellis PD,Langford CF,Haynes C,Seo DM,Goldschmidt-Clermont PJ,Shah SH,Kraus WE,Hauser ER,Gregory SG

    更新日期：2013-12-20 00:00:00

  • Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas.

    abstract：:Meningiomas are common nervous system tumors, whose molecular pathogenesis is poorly understood. To date, the most frequent genetic alteration detected in these tumors is loss of heterozygosity (LOH) on chromosome 22q. This finding led to the identification of the neurofibromatosis 2 (NF2) tumor suppressor gene on 22q...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.10.1495

    authors： Gutmann DH,Donahoe J,Perry A,Lemke N,Gorse K,Kittiniyom K,Rempel SA,Gutierrez JA,Newsham IF

    更新日期：2000-06-12 00:00:00

  • Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females.

    abstract：:XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X and the Y chromosomes. We have isolated and characterized a novel gene on the Y chromosome, PRKY. This gene is highly homologous to a previously isolated gene from Xp22.3, PRKX, and represents a member of ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/6.11.1985

    authors： Schiebel K,Winkelmann M,Mertz A,Xu X,Page DC,Weil D,Petit C,Rappold GA

    更新日期：1997-10-01 00:00:00

  • Inhibition of death-associated protein kinase 1 attenuates the phosphorylation and amyloidogenic processing of amyloid precursor protein.

    abstract：:Extracellular deposition of amyloid-beta (Aβ) peptide, a metabolite of sequential cleavage of amyloid precursor protein (APP), is a critical step in the pathogenesis of Alzheimer's disease (AD). While death-associated protein kinase 1 (DAPK1) is highly expressed in AD brains and its genetic variants are linked to AD r...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw114

    authors： Kim BM,You MH,Chen CH,Suh J,Tanzi RE,Ho Lee T

    更新日期：2016-06-15 00:00:00

  • Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.

    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

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw023

    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

  • NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

    abstract：:NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and li...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg321

    authors： Caldas H,Herman GE

    更新日期：2003-11-15 00:00:00

  • A genetic risk factor for mouse neural tube defects: defining the embryonic basis.

    abstract：:Genetic polymorphisms are thought to play an important role in determining susceptibility to neural tube defects (NTDs), for example between different ethnic groups, but the embryonic manifestation of these polymorphic genetic influences is unclear. We have used a mouse model to test experimentally whether polymorphic...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.4.575

    authors： Fleming A,Copp AJ

    更新日期：2000-03-01 00:00:00

  • Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.

    abstract：:A recurrent t(9;22) (q22;q12) chromosome translocation has been described in extraskeletal myxoid chondrosarcoma (EMC). Fluorescent in situ hybridization experiments performed on one EMC tumour indicated that the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant EWS transcr...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/4.12.2219

    authors： Labelle Y,Zucman J,Stenman G,Kindblom LG,Knight J,Turc-Carel C,Dockhorn-Dworniczak B,Mandahl N,Desmaze C,Peter M

    更新日期：1995-12-01 00:00:00

  • Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle.

    abstract：:Plasmid pRSVL persisted and expressed luciferase for at least 19 months in mouse skeletal muscle after intramuscular injection. Other injected plasmids also stably expressed long-term suggesting that any plasmid DNA could stably persist and express in muscle. Plasmid DNA was demonstrated by quantitative PCR in some of...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/1.6.363

    authors： Wolff JA,Ludtke JJ,Acsadi G,Williams P,Jani A

    更新日期：1992-09-01 00:00:00

  • A conserved splicing mechanism of the LMNA gene controls premature aging.

    abstract：:Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and l...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr385

    authors： Lopez-Mejia IC,Vautrot V,De Toledo M,Behm-Ansmant I,Bourgeois CF,Navarro CL,Osorio FG,Freije JM,Stévenin J,De Sandre-Giovannoli A,Lopez-Otin C,Lévy N,Branlant C,Tazi J

    更新日期：2011-12-01 00:00:00

  • Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors.

    abstract：:Neurodevelopmental disorders frequently share common clinical features and appear high rate of comorbidity, such as those present in patients with attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). While characterizing behavioral phenotypes in the mouse model of cyclin-dependent kinas...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx279

    authors： Jhang CL,Huang TN,Hsueh YP,Liao W

    更新日期：2017-10-15 00:00:00

  • Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

    abstract：:The human POLG gene encodes the catalytic subunit of mitochondrial DNA polymerase gamma (pol gamma). Mutations in pol gamma are associated with a spectrum of disease phenotypes including autosomal dominant and recessive forms of progressive external ophthalmoplegia, spino-cerebellar ataxia and epilepsy, and Alpers-Hut...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl219

    authors： Baruffini E,Lodi T,Dallabona C,Puglisi A,Zeviani M,Ferrero I

    更新日期：2006-10-01 00:00:00

  • Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.

    abstract：:Proximal spinal muscular atrophy (SMA) is a common autosomal recessive childhood form of motor neuron disease. Previous studies have highlighted nerve- and muscle-specific events in SMA, including atrophy of muscle fibres and post-synaptic motor endplates, loss of lower motor neuron cell bodies and denervation of neur...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddm367

    authors： Murray LM,Comley LH,Thomson D,Parkinson N,Talbot K,Gillingwater TH

    更新日期：2008-04-01 00:00:00

  • Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

    abstract：:Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp298

    authors： Asai H,Hirano M,Shimada K,Kiriyama T,Furiya Y,Ikeda M,Iwamoto T,Mori T,Nishinaka K,Konishi N,Udaka F,Ueno S

    更新日期：2009-10-01 00:00:00

  • Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ.

    abstract：:Polycystin-1 (PC1), encoded by the PKD1 gene that is mutated in the autosomal dominant polycystic kidney disease, regulates a number of processes including bone development. Activity of the transcription factor RunX2, which controls osteoblast differentiation, is reduced in Pkd1 mutant mice but the mechanism governing...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy322

    authors： Merrick D,Mistry K,Wu J,Gresko N,Baggs JE,Hogenesch JB,Sun Z,Caplan MJ

    更新日期：2019-01-01 00:00:00

  • Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity.

    abstract：:Myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by an expanded (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene. The toxic RNA transcripts produced from the mutant allele alter the function of RNA-binding proteins leading to the functio...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt419

    authors： Kim YK,Mandal M,Yadava RS,Paillard L,Mahadevan MS

    更新日期：2014-01-15 00:00:00

  • Polymorphism in the activity of human crossover hotspots independent of local DNA sequence variation.

    abstract：:Meiotic crossovers in the human genome cluster into highly localized hotspots identifiable indirectly from patterns of DNA diversity and directly by high-resolution sperm typing. Little is known about factors that control hotspot activity and the apparently rapid turnover of hotspots during recent evolution. Clues can...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl063

    authors： Neumann R,Jeffreys AJ

    更新日期：2006-05-01 00:00:00

  • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses.

    abstract：:In order to characterize the dynamics of CTG repeat instability in somatic and germline tissue from myotonic dystrophy (DM) males we have used small pool polymerase chain reaction (PCR) in a detailed quantitative analysis of repeat length variation. We demonstrate that the heterogeneous smear of CTG repeats observed i...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/4.1.1

    authors： Monckton DG,Wong LJ,Ashizawa T,Caskey CT

    更新日期：1995-01-01 00:00:00

  • A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

    abstract：:A new gene, designated Smcx, was cloned from the mouse X chromosome by its homology to the Y located gene Smcy. Using direct in situ hybridisation Smcx was mapped to the distal end of the mouse X chromosome (XF2-XF4) and its human homologue, SMCX, was mapped to proximal Xp (Xp11.1-Xp11.2). Further meiotic mapping in t...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.6.879

    authors： Agulnik AI,Mitchell MJ,Mattei MG,Borsani G,Avner PA,Lerner JL,Bishop CE

    更新日期：1994-06-01 00:00:00