Literature DB >> 25997753

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Hane Lee1, Lisette Nevarez2, Ralph S Lachman3, William R Wilcox4, Deborah Krakow3,5,6,7, Daniel H Cohn2,3,5.   

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Year:  2015        PMID： 25997753      PMCID： PMC5036935          DOI： 10.1002/ajmg.a.37173

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  16 in total

1.  Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity.

Authors:  M Muraoka; M Kawakita; N Ishida
Journal:  FEBS Lett       Date:  2001-04-20       Impact factor: 4.124

2.  A new category of lethal short-limbed dwarfism.

Authors:  S Knowles; R Winter; D Rimoin
Journal:  Am J Med Genet       Date:  1986-09

3.  Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity.

Authors:  Mark W Sleeman; Katherine E Wortley; Ka-Man V Lai; Lori C Gowen; Jennifer Kintner; William O Kline; Karen Garcia; Trevor N Stitt; George D Yancopoulos; Stanley J Wiegand; David J Glass
Journal:  Nat Med       Date:  2005-01-16       Impact factor: 53.440

4.  Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Authors:  Céline Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole-Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloísa G Santos; Stavit A Shalev; Andrea Superti-Furga; Anne-Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025

5.  Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Authors:  Jennifer E Below; Dawn L Earl; Kathryn M Shively; Margaret J McMillin; Joshua D Smith; Emily H Turner; Mark J Stephan; Lihadh I Al-Gazali; Jozef L Hertecant; David Chitayat; Sheila Unger; Daniel H Cohn; Deborah Krakow; James M Swanson; Elaine M Faustman; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025

6.  Exome sequencing identifies PDE4D mutations in acrodysostosis.

Authors:  Hane Lee; John M Graham; David L Rimoin; Ralph S Lachman; Pavel Krejci; Stuart W Tompson; Stanley F Nelson; Deborah Krakow; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2012-03-29       Impact factor: 11.025

7.  Developmental defects and rescue from glucose intolerance of a catalytically-inactive novel Ship2 mutant mouse.

Authors:  Eléonore Dubois; Monique Jacoby; Marianne Blockmans; Eileen Pernot; Serge N Schiffmann; Lazaros C Foukas; Jean-Claude Henquin; Bart Vanhaesebroeck; Christophe Erneux; Stéphane Schurmans
Journal:  Cell Signal       Date:  2012-06-30       Impact factor: 4.315

8.  Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

Authors:  Shuichi Hiraoka; Tatsuya Furuichi; Gen Nishimura; Shunichi Shibata; Masaki Yanagishita; David L Rimoin; Andrea Superti-Furga; Peter G Nikkels; Minako Ogawa; Kayoko Katsuyama; Hidenao Toyoda; Akiko Kinoshita-Toyoda; Nobuhiro Ishida; Kyoichi Isono; Yutaka Sanai; Daniel H Cohn; Haruhiko Koseki; Shiro Ikegawa
Journal:  Nat Med       Date:  2007-10-21       Impact factor: 53.440

9.  Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

Authors:  T Furuichi; H Kayserili; S Hiraoka; G Nishimura; H Ohashi; Y Alanay; J C Lerena; A D Aslanger; H Koseki; D H Cohn; A Superti-Furga; S Unger; S Ikegawa
Journal:  J Med Genet       Date:  2009-06-08       Impact factor: 6.318

Review 10.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802
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  5 in total

Review 1.  INPPL1 gene mutations in opsismodysplasia.

Authors:  Anaïs Fradet; Jamie Fitzgerald
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

2.  Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.

Authors:  Cori Feist; Paul Holden; Jamie Fitzgerald
Journal:  Clin Dysmorphol       Date:  2016-10       Impact factor: 0.816

3.  Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Authors:  Long Guo; Nursel H Elcioglu; Shuji Mizumoto; Zheng Wang; Bilge Noyan; Hatice M Albayrak; Shuhei Yamada; Naomichi Matsumoto; Noriko Miyake; Gen Nishimura; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2017-03-23       Impact factor: 3.172

4.  A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Authors:  Carsten Rautengarten; Oliver W Quarrell; Karen Stals; Richard C Caswell; Elisa De Franco; Emma Baple; Nadia Burgess; Roobin Jokhi; Joshua L Heazlewood; Amaka C Offiah; Berit Ebert; Sian Ellard
Journal:  Hum Mol Genet       Date:  2019-11-01       Impact factor: 6.150

5.  Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Authors:  Iman Sabri Abumansour; Radiah Mahmoud Iskandarani; Alaa Edrees; Farrukh Javed; Fadwah Taher; Ghaidaa Farouk Hakeem
Journal:  Clin Case Rep       Date:  2021-05-28
  5 in total

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