Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

Nature - 30 Apr 2009

Gao Bo, Hu Jianxin, Stricker Sigmar, Cheung Martin, Ma Gang, Law Kit Fong, Witte Florian, Briscoe James, Mundlos Stefan, He Lin, Cheah Kathryn S E, Chan Danny

Abstract excerpt

Brachydactyly type A1 (BDA1) was the first recorded disorder of the autosomal dominant Mendelian trait in humans, characterized by shortened or absent middle phalanges in digits. It is associated with heterozygous missense mutations in indian hedgehog (IHH). Hedgehog proteins are important morpho...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chickens
Share to Hedgehog Proteins
Share to Limb Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Inbred C57BL

Share to Mice, Mutant Strains

Share to Patched-1 Receptor

Share to Patched Receptors

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 19252479
DOI: 10.1038/nature07862

Genes

HIP1
IHH
PTCH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19252479-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.PMID 19252479Read ↗

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.Semantic proximity Read ↗

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.Semantic proximity Read ↗

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.Semantic proximity Read ↗

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.Semantic proximity Read ↗

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1.Semantic proximity Read ↗

Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.Semantic proximity Read ↗

A large duplication involving the IHH locus mimics acrocallosal syndrome.Semantic proximity Read ↗

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1Semantic proximity Read ↗

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.Semantic proximity Read ↗

Answering a century old riddle: brachydactyly type A1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.