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

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.

Nature genetics - 1 Oct 2006

Boyadjiev Simeon A, Fromme J Christopher, Ben Jin, Chong Samuel S, Nauta Christopher, Hur David J, Zhang George, Hamamoto Susan, Schekman Randy, Ravazzola Mariella, Orci Lelio, Eyaid Wafaa

Abstract excerpt

Cranio-lenticulo-sutural dysplasia (CLSD) is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects mapped to chromosome 14q13-q21 (ref. 1). Here we show, using a positional cloning approach, that an F382L amino acid su...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Embryo, Nonmammalian

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Facial Bones

Share to Golgi Apparatus

Share to Vesicular Transport Proteins

Share to Zebrafish

Share to Zebrafish Proteins

Source

Identifiers

PMID: 16980979
DOI: 10.1038/ng1876

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16980979-2026-09-02.2. 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

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.PMID 16980979Read ↗

Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.Semantic proximity Read ↗

Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.Semantic proximity Read ↗

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.Semantic proximity Read ↗

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.Semantic proximity Read ↗

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.Semantic proximity Read ↗

Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.Semantic proximity Read ↗

Sec24D-Dependent Transport of Extracellular Matrix Proteins Is Required for Zebrafish Skeletal MorphogenesisSemantic proximity Read ↗

Sec23IP recruits the Cohen syndrome factor VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formationSemantic proximity Read ↗

SEC31A mutation affects ER homeostasis, causing a neurological syndromeSemantic proximity Read ↗

Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivoSemantic proximity Read ↗

Sec23IP recruits VPS13B/COH1 to ER exit site–Golgi interface for tubular ERGIC formationSemantic proximity Read ↗

The Function of the COPII Gene Paralogs SEC23A and SEC23B Are Interchangeable <i>In Vivo</i>Semantic proximity Read ↗

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