Literature DB >> 7611297

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Z Chettouh1, M F Croquette, B Delobel, S Gilgenkrants, C Leonard, C Maunoury, M Prieur, M O Rethoré, P M Sinet, M Chery.   

Abstract

We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to particular features of monosomy 21, were thereby defined. Five such regions were identified for 21 features. Ten of the features could be assigned to the region flanked by genes APP and SOD1: six facial features, transverse palmar crease, arthrogryposis-like symptoms, hypertonia, and contribution to mental retardation. This region, covering the interface of bands 21q21-21q22.1, is 4.7-6.4 Mb long and contains the gene encoding the glutamate receptor subunit GluR5 (GRIK1).

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Year:  1995        PMID： 7611297      PMCID： PMC1801243     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  75 in total

1.  Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

Authors:  Z Rahmani; J L Blouin; N Creau-Goldberg; P C Watkins; J F Mattei; M Poissonnier; M Prieur; Z Chettouh; A Nicole; A Aurias
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

2.  A polymorphic locus [D21S144] is detected by probe pVC12 on chromosome 21.

Authors:  G Van Camp; P Stinissen; A Vandenberghe; C Van Broeckhoven
Journal:  Nucleic Acids Res       Date:  1989-06-12       Impact factor: 16.971

3.  Construction of a cDNA clone containing the entire coding region of the human liver-type phosphofructokinase.

Authors:  D Levanon; E Danciger; N Dafni; Y Groner
Journal:  Biochem Biophys Res Commun       Date:  1987-09-30       Impact factor: 3.575

4.  Partial deletion 21: case report with biochemical studies and review.

Authors:  N J Carpenter; J S Mayes; B Say; D P Wilson
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

5.  Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity.

Authors:  A D Ackerman; J C Fackler; C M Tuck-Muller; M M Tarpey; B A Freeman; M C Rogers
Journal:  N Engl J Med       Date:  1988-06-23       Impact factor: 91.245

6.  Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Authors:  M C Phelan; C C Morton; R E Stevenson; R E Tanzi; G D Stewart; P C Watkins; J F Gusella; J A Amos
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

7.  Isolation and regional mapping of DNA sequences unique to human chromosome 21.

Authors:  J R Korenberg; M L Croyle; D R Cox
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

8.  Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

Authors:  M K McCormick; A Schinzel; M B Petersen; G Stetten; D J Driscoll; E S Cantu; L Tranebjaerg; M Mikkelsen; P C Watkins; S E Antonarakis
Journal:  Genomics       Date:  1989-08       Impact factor: 5.736

9.  Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions.

Authors:  K Gardiner; M Horisberger; J Kraus; U Tantravahi; J Korenberg; V Rao; S Reddy; D Patterson
Journal:  EMBO J       Date:  1990-01       Impact factor: 11.598

10.  Identification in chickens of an evolutionarily conserved cellular ets-2 gene (c-ets-2) encoding nuclear proteins related to the products of the c-ets proto-oncogene.

Authors:  K E Boulukos; P Pognonec; A Begue; F Galibert; J C Gesquière; D Stéhelin; J Ghysdael
Journal:  EMBO J       Date:  1988-03       Impact factor: 11.598
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  23 in total

1.  Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Authors:  R Oegema; A de Klein; A J Verkerk; R Schot; B Dumee; H Douben; B Eussen; L Dubbel; P J Poddighe; I van der Laar; W B Dobyns; P J van der Spek; M H Lequin; I F M de Coo; M-C Y de Wit; M W Wessels; G M S Mancini
Journal:  Mol Syndromol       Date:  2010-09-14

2.  Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Authors:  Robert Lyle; Frédérique Béna; Sarantis Gagos; Corinne Gehrig; Gipsy Lopez; Albert Schinzel; James Lespinasse; Armand Bottani; Sophie Dahoun; Laurence Taine; Martine Doco-Fenzy; Pascale Cornillet-Lefèbvre; Anna Pelet; Stanislas Lyonnet; Annick Toutain; Laurence Colleaux; Jürgen Horst; Ingo Kennerknecht; Nobuaki Wakamatsu; Maria Descartes; Judy C Franklin; Lina Florentin-Arar; Sophia Kitsiou; Emilie Aït Yahya-Graison; Maher Costantine; Pierre-Marie Sinet; Jean M Delabar; Stylianos E Antonarakis
Journal:  Eur J Hum Genet       Date:  2008-11-12       Impact factor: 4.246

3.  Use of YAC fragmentation to delimit a duplicated region on human chromosome 21.

Authors:  M C Potier; A Dutriaux; R Reeves
Journal:  Mamm Genome       Date:  1996-01       Impact factor: 2.957

4.  Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients.

Authors:  Karol Dowjat; Tatyana Adayev; Wojciech Kaczmarski; Jerzy Wegiel; Yu-Wen Hwang
Journal:  J Neuropathol Exp Neurol       Date:  2012-12       Impact factor: 3.685

5.  Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

Authors:  R Valero; G Marfany; R Gil-Benso; M A Ibáñez; I López-Pajares; F Prieto; G Rullan; E Sarret; R Gonzàlez-Duarte
Journal:  J Med Genet       Date:  1999-09       Impact factor: 6.318

6.  Amyloid precursor protein metabolism in fibroblasts from individuals with one, two or three copies of the amyloid precursor protein (APP) gene.

Authors:  M Racchi; J A Johnston; F M Flood; R F Cowburn; S Govoni
Journal:  Biochem J       Date:  1999-03-15       Impact factor: 3.857

7.  Genomic analysis of partial 21q monosomies with variable phenotypes.

Authors:  Elisha D O Roberson; Elizabeth Squibb Wohler; Julie E Hoover-Fong; Emily Lisi; Eric L Stevens; George H Thomas; Jay Leonard; Ada Hamosh; Jonathan Pevsner
Journal:  Eur J Hum Genet       Date:  2010-09-08       Impact factor: 4.246

8.  Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.

Authors:  Tao Yu; Steven J Clapcote; Zhongyou Li; Chunhong Liu; Annie Pao; Allison R Bechard; Sandra Carattini-Rivera; Sei-Ichi Matsui; John C Roder; Antonio Baldini; William C Mobley; Allan Bradley; Y Eugene Yu
Journal:  Mamm Genome       Date:  2010-05-29       Impact factor: 2.957

9.  Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Authors:  Rikke S Møller; Sabine Kübart; Maria Hoeltzenbein; Babett Heye; Ida Vogel; Christian P Hansen; Corinna Menzel; Reinhard Ullmann; Niels Tommerup; Hans-Hilger Ropers; Zeynep Tümer; Vera M Kalscheuer
Journal:  Am J Hum Genet       Date:  2008-04-10       Impact factor: 11.025

10.  Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Authors:  Marwan Shinawi; Ayelet Erez; Deborah L Shardy; Brendan Lee; Rizwan Naeem; George Weissenberger; A Craig Chinault; Sau Wai Cheung; Sharon E Plon
Journal:  Blood       Date:  2008-05-16       Impact factor: 22.113
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