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 loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

Human genetics - 1 May 2002

de la Cruz June M, Bamford Richard N, Burdine Rebecca D, Roessler Erich, Barkovich A James, Donnai Dian, Schier Alexander F, Muenke Maximilian

Abstract excerpt

TDGF1 (CRIPTO) is an EGF-CFC family member and an obligate co-receptor involved in NODAL signaling, a developmental program implicated in midline, forebrain, and left-right axis development in model organisms. Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Motifs
Share to Epidermal Growth Factor
Share to GPI-Linked Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Holoprosencephaly

Share to Intercellular Signaling Peptides and Proteins

Share to Prosencephalon

Share to Zebrafish

Share to Zebrafish Proteins

Source

Identifiers

PMID: 12073012
DOI: 10.1007/s00439-002-0709-3

Genes

EGF
CFC1
CRIPTO
NODAL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12073012-2026-09-02.2. 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 loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.PMID 12073012Read ↗

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.Semantic proximity Read ↗

Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.Semantic proximity Read ↗

Non-cell-autonomous role for Cripto in axial midline formation during vertebrate embryogenesis.Semantic proximity Read ↗

Identification of novel rare mutations of DACT1 in human neural tube defects.Semantic proximity Read ↗

Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.Semantic proximity Read ↗

A role of the cryptic gene in the correct establishment of the left-right axis.Semantic proximity Read ↗

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.Semantic proximity Read ↗

Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.Semantic proximity Read ↗

Mutations in DCC Cause Congenital Mirror MovementsSemantic proximity Read ↗

Mapping of the mouse Tdgf1 gene and Tdgf pseudogenes.Semantic proximity Read ↗

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.Semantic proximity Read ↗

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1Semantic proximity Read ↗

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