Literature DB >> 17486609

Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.

Guoming Zhu1, Xin Ke, Qiji Liu, Jisheng Li, Bingxi Chen, Changshun Shao, Yaoqin Gong.   

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Year:  2007        PMID： 17486609     DOI： 10.1002/ajmg.a.31728

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


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  4 in total

1.  Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.

Authors:  Smrithi Salian; Anju Shukla; Gen Nishimura; Katta M Girisha
Journal:  J Pediatr Genet       Date:  2017-03-07

2.  Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Authors:  Ashley M Byrnes; Lemuel Racacho; Allison Grimsey; Louanne Hudgins; Andrea C Kwan; Michel Sangalli; Alexa Kidd; Yuval Yaron; Yu-Lung Lau; Sarah M Nikkel; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

3.  The hedgehog pathway conditions the bone microenvironment for osteolytic metastasis of breast cancer.

Authors:  Shamik Das; Rajeev S Samant; Lalita A Shevde
Journal:  Int J Breast Cancer       Date:  2011-12-01

Review 4.  Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.

Authors:  Yo Niida; Sumihito Togi; Hiroki Ura
Journal:  Int J Mol Sci       Date:  2021-12-02       Impact factor: 5.923
  4 in total

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