Literature DB >> 16385461

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

Maki Fukami, Fumiko Kato, Toshihiro Tajima, Susumu Yokoya, Tsutomu Ogata.   

Abstract

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Year:  2006        PMID： 16385461      PMCID： PMC1380216          DOI： 10.1086/499254

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


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  9 in total

1.  PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins.

Authors:  K Shanmugam; N C Green; I Rambaldi; H U Saragovi; M S Featherstone
Journal:  Mol Cell Biol       Date:  1999-11       Impact factor: 4.272

Review 2.  Hox genes in digit development and evolution.

Authors:  J Zákány; D Duboule
Journal:  Cell Tissue Res       Date:  1999-04       Impact factor: 5.249

3.  The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.

Authors:  E Rao; R J Blaschke; A Marchini; B Niesler; M Burnett; G A Rappold
Journal:  Hum Mol Genet       Date:  2001-12-15       Impact factor: 6.150

4.  Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.

Authors:  S F Flanagan; C F J Munns; M Hayes; B Williams; M Berry; D Vickers; E Rao; G A Rappold; J A Batch; V J Hyland; I A Glass
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

5.  Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

Authors:  Rudiger J Blaschke; Christine Töpfer; Antonio Marchini; Herbert Steinbeisser; Johannes W G Janssen; Gudrun A Rappold
Journal:  J Biol Chem       Date:  2003-09-05       Impact factor: 5.157

Review 6.  Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.

Authors:  Maki Fukami; Torayuki Okuyama; Shunji Yamamori; Gen Nishimura; Tsutomu Ogata
Journal:  Am J Med Genet A       Date:  2005-08-15       Impact factor: 2.802

7.  Conserved regulation of proximodistal limb axis development by Meis1/Hth.

Authors:  N Mercader; E Leonardo; N Azpiazu; A Serrano; G Morata; C Martínez; M Torres
Journal:  Nature       Date:  1999-11-25       Impact factor: 49.962

8.  A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Authors:  Sara Benito-Sanz; N Simon Thomas; Céline Huber; Celine Huber; Darya Gorbenko del Blanco; Darya Gorbenko Del Blanco; Miriam Aza-Carmona; John A Crolla; Vivienne Maloney; Gudrun Rappold; Jesús Argente; Jesus Argente; Angel Campos-Barros; Valérie Cormier-Daire; Valerie Cormier-Daire; Karen E Heath
Journal:  Am J Hum Genet       Date:  2005-08-15       Impact factor: 11.025

9.  The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

Authors:  M Clement-Jones; S Schiller; E Rao; R J Blaschke; A Zuniga; R Zeller; S C Robson; G Binder; I Glass; T Strachan; S Lindsay; G A Rappold
Journal:  Hum Mol Genet       Date:  2000-03-22       Impact factor: 6.150
  9 in total
  25 in total

1.  Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Authors:  Maki Fukami; Yasuhiro Naiki; Koji Muroya; Takashi Hamajima; Shun Soneda; Reiko Horikawa; Tomoko Jinno; Momori Katsumi; Akie Nakamura; Yumi Asakura; Masanori Adachi; Tsutomu Ogata; Susumu Kanzaki
Journal:  J Hum Genet       Date:  2015-06-04       Impact factor: 3.172

2.  Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

Authors:  Katerina Hirschfeldova; Martina Florianova; Vera Kebrdlova; Marketa Urbanova; Jitka Stekrova
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

3.  Enhancer elements upstream of the SHOX gene are active in the developing limb.

Authors:  Claudia Durand; Fiona Bangs; Jason Signolet; Eva Decker; Cheryll Tickle; Gudrun Rappold
Journal:  Eur J Hum Genet       Date:  2009-12-09       Impact factor: 4.246

4.  Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

Authors:  Hirohito Shima; Toshiaki Tanaka; Tsutomu Kamimaki; Sumito Dateki; Koji Muroya; Reiko Horikawa; Junko Kanno; Masanori Adachi; Yasuhiro Naiki; Hiroyuki Tanaka; Hiroyo Mabe; Hideaki Yagasaki; Shigeo Kure; Yoichi Matsubara; Toshihiro Tajima; Kenichi Kashimada; Tomohiro Ishii; Yumi Asakura; Ikuma Fujiwara; Shun Soneda; Keisuke Nagasaki; Takashi Hamajima; Susumu Kanzaki; Tomoko Jinno; Tsutomu Ogata; Maki Fukami
Journal:  J Hum Genet       Date:  2016-03-17       Impact factor: 3.172

5.  Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Authors:  Gudrun Rappold; Werner F Blum; Elena P Shavrikova; Brenda J Crowe; Ralph Roeth; Charmian A Quigley; Judith L Ross; Beate Niesler
Journal:  J Med Genet       Date:  2006-12-20       Impact factor: 6.318

Review 6.  Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Authors:  Brooke Weckselblatt; M Katharine Rudd
Journal:  Trends Genet       Date:  2015-07-22       Impact factor: 11.639

Review 7.  SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

Authors:  Maki Fukami; Atsuhito Seki; Tsutomu Ogata
Journal:  Mol Syndromol       Date:  2016-03-15

8.  Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.

Authors:  Maki Fukami; Sumito Dateki; Fumiko Kato; Yukihiro Hasegawa; Hiroshi Mochizuki; Reiko Horikawa; Tsutomu Ogata
Journal:  J Hum Genet       Date:  2008-03-06       Impact factor: 3.172

9.  Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

Authors:  J Chen; G Wildhardt; Z Zhong; R Röth; B Weiss; D Steinberger; J Decker; W F Blum; G Rappold
Journal:  J Med Genet       Date:  2009-07-02       Impact factor: 6.318

10.  Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.

Authors:  Sarina G Kant; Sander J Broekman; Caroline C de Wit; Marloes Bos; Sitha A Scheltinga; Egbert Bakker; Wilma Oostdijk; Hetty J van der Kamp; Erik W van Zwet; Annemieke H van der Hout; Jan M Wit; Monique Losekoot
Journal:  PeerJ       Date:  2013-02-19       Impact factor: 2.984
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