Associated Papers
Insights into the Molecular Pathogenesis of Short Stature: the Role of the IHH c.331_333del Mutation and Implications for Treatment.
Ke Y et al.
Phenomics (cham, Switzerland), 2025
A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.
Zhu T et al.
Phenomics (cham, Switzerland), 2025
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
Díaz-González F et al.
European Journal of Endocrinology, 2024
Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene.
Zeng F et al.
Frontiers in Genetics, 2022
Altered microRNAs in C3H10T1/2 cells induced by p.E95K mutant IHH signaling.
Zhou W et al.
Hereditas, 2021
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.
Ozaki N et al.
Bmc Medical Genomics, 2021
Highly Conserved C-Terminal Region of Indian Hedgehog N-Fragment Contributes to Its Auto-Processing and Multimer Formation.
Wang X et al.
Biomolecules, 2021
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.
Shen L et al.
Bmc Genetics, 2019
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1.
Ho R et al.
Sage Open Medical Case Reports, 2018
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.
Salian S et al.
Journal of Pediatric Genetics, 2017
Ihh and PTH1R signaling in limb mesenchyme is required for proper segmentation and subsequent formation and growth of digit bones.
Amano K et al.
Bone, 2016
The Hedgehog signalling pathway in bone formation.
Yang J et al.
International Journal of Oral Science, 2015
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.
Palka C et al.
Clinical Dysmorphology, 2012
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
Ma G et al.
Cell Research, 2011
Mechanisms of digit formation: Human malformation syndromes tell the story.
Stricker S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2011
Brachydactyly type A1 with short humerus and associated skeletal features.
Lacombe D et al.
American Journal of Medical Genetics. Part A, 2010
All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner.
Kavran JM et al.
The Journal of Biological Chemistry, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.
Guo S et al.
Cellular & Molecular Biology Letters, 2010
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
Gao B et al.
Nature, 2009
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.
McLellan JS et al.
Nature, 2008
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.
Lodder EM et al.
American Journal of Medical Genetics. Part A, 2008
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.
Liu M et al.
Journal of Human Genetics, 2006
Human genome research in China.
Qiang B
Journal of Molecular Medicine (berlin, Germany), 2004
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
Kirkpatrick TJ et al.
Journal of Medical Genetics, 2003
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
Gao B et al.
Nature Genetics, 2001
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.
Stattin EL et al.
European Journal of Medical Genetics, 0