Associated Papers
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
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.
Ozaki N et al.
Bmc Medical Genomics, 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
A novel variant of IHH in a Chinese family with brachydactyly type 1.
Yang Q et al.
Bmc Medical Genetics, 2020
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.
Shen L et al.
Bmc Genetics, 2019
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
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.
Jang MA et al.
Annals of Laboratory Medicine, 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
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
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
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.
McLellan JS et al.
Nature, 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
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
Hellemans J et al.
American Journal of Human 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