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

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.

Human genetics - 1 Jan 2017

Shamseldin Hanan E, Khalifa Ola, Binamer Yousef M, Almutawa Abdulmonem, Arold Stefan T, Zaidan Hamad, Alkuraya Fowzan S

Abstract excerpt

Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The...

Read the complete abstract on PubMed

Topics

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

Share to Cell Differentiation
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computational Biology

Share to Disease Models, Animal

Share to Ectodermal Dysplasia

Share to Keratinocytes

Share to Mice, Knockout

Share to Proteins

Source

Identifiers

PMID: 27838789
DOI: 10.1007/s00439-016-1741-z

Genes

KDF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.PMID 27838789Read ↗

Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells.Semantic proximity Read ↗

Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.Semantic proximity Read ↗

Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.Semantic proximity Read ↗

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathwaySemantic proximity Read ↗

Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.Semantic proximity Read ↗

Advances in genetic mechanisms and precision medicine research for cleft lip and palate.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.Semantic proximity Read ↗

A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.Semantic proximity Read ↗

Ectodermal Dysplasia – An Overview and UpdateSemantic proximity Read ↗

Ectodermal dysplasias: a clinical and molecular review.Semantic proximity Read ↗

Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.Semantic proximity Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

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