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18 in total

1. Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance.

Authors: K Tyler; N Sarioglu; J Kunze
Journal: Am J Med Genet Date: 1999-03-05

2. A unique chondrodysplasia secondary to a defect in chondroosseous transformation.

Authors: J Zonana; D L Rimoin; R S Lachman; A H Cohen
Journal: Birth Defects Orig Artic Ser Date: 1977

Review 3. Modular peptide recognition domains in eukaryotic signaling.

Authors: J Kuriyan; D Cowburn
Journal: Annu Rev Biophys Biomol Struct Date: 1997

4. SH2-containing inositol 5'-phosphatase SHIP2 associates with the p130(Cas) adapter protein and regulates cellular adhesion and spreading.

Authors: N Prasad; R S Topping; S J Decker
Journal: Mol Cell Biol Date: 2001-02 Impact factor: 4.272

5. 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

Review 6. Opsismodysplasia: another case and literature review.

Authors: H G Santos; J M Saraiva
Journal: Clin Dysmorphol Date: 1995-07 Impact factor: 0.816

Review 7. Additional case of opsismodysplasia supporting autosomal recessive inheritance.

Authors: F A Beemer; K S Kozlowski
Journal: Am J Med Genet Date: 1994-02-01

8. Four recently described osteochondrodysplasias.

Authors: P Maroteaux; V Stanescu; R Stanescu
Journal: Prog Clin Biol Res Date: 1982

9. Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

Authors: Aritoshi Iida; Nobuhiko Okamoto; Noriko Miyake; Gen Nishimura; Satoshi Minami; Takuya Sugimoto; Mitsuko Nakashima; Yoshinori Tsurusaki; Hirotomo Saitsu; Masaaki Shiina; Kazuhiro Ogata; Shigehiko Watanabe; Hirofumi Ohashi; Naomichi Matsumoto; Shiro Ikegawa
Journal: J Hum Genet Date: 2013-04-04 Impact factor: 3.172

10. Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

Authors: P Maroteaux; V Stanescu; R Stanescu; B Le Marec; C Moraine; H Lejarraga
Journal: Am J Med Genet Date: 1984-09

5 in total

1. PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

Authors: Jeffrey Staples; Dandi Qiao; Michael H Cho; Edwin K Silverman; Deborah A Nickerson; Jennifer E Below
Journal: Am J Hum Genet Date: 2014-10-30 Impact factor: 11.025

Review 2. INPPL1 gene mutations in opsismodysplasia.

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

3. 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

4. Solution structure of SHIP2 SH2 domain and its interaction with a phosphotyrosine peptide from c-MET.

Authors: Zi Wang; Yao Nie; Kunxiao Zhang; Henghao Xu; Theresa A Ramelot; Michael A Kennedy; Maili Liu; Jiang Zhu; Yunhuang Yang
Journal: Arch Biochem Biophys Date: 2018-08-27 Impact factor: 4.013

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