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

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

American journal of human genetics - 1 Jul 2009

Guernsey Duane L, Jiang Haiyan, Evans Susan C, Ferguson Meghan, Matsuoka Makoto, Nightingale Mathew, Rideout Andrea L, Provost Sylvie, Bedard Karen, Orr Andrew, Dubé Marie-Pierre, Ludman Mark, Samuels Mark E

Abstract excerpt

Autosomal-recessive cutis laxa type 2 (ARCL2) is a multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin, joint laxity, and a general developmental delay. Cutis laxa includes a family of clinically overlapping conditions with confusing nomenclature, genera...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Canada
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cutis Laxa

Share to DNA Mutational Analysis

Share to Genes, Recessive

Share to Pedigree

Share to Proline

Source

Open in PubMed Open full text

Identifiers

PMID: 19576563
DOI: 10.1016/j.ajhg.2009.06.008
PMCID: PMC2706970

Genes

PYCR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19576563-2026-09-02.2. 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

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.PMID 19576563Read ↗

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.Semantic proximity Read ↗

Novel compound-heterozygous variants in PYCR1 broaden the mutation spectrum of autosomal-recessive cutis laxaSemantic proximity Read ↗

Mutations in PYCR1 cause cutis laxa with progeroid features.Semantic proximity Read ↗

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.Semantic proximity Read ↗

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.Semantic proximity Read ↗

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.Semantic proximity Read ↗

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).Semantic proximity Read ↗

Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.Semantic proximity Read ↗

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.Semantic proximity Read ↗

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.Semantic proximity Read ↗

Genetic analysis of Pycr1 and Pycr2 in mice.Semantic proximity Read ↗

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.Semantic proximity Read ↗

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