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

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Molecular genetics and metabolism - 1 Nov 2013

Dimopoulou Aikaterini, Fischer Björn, Gardeitchik Thatjana, Schröter Phillipe, Kayserili Hülya, Schlack Claire, Li Yun, Brum Jaime Moritz, Barisic Ingeborg, Castori Marco, Spaich Christiane, Fletcher Elaine, Mahayri Zeina, Bhat Meenakshi, Girisha Katta M, Lachlan Katherine, Johnson Diana, Phadke Shubha, Gupta Neerja, Simandlova Martina, Kabra Madhulika, David Albert, Nijtmans Leo, Chitayat David, Tuysuz Beyhan, Brancati Francesco, Mundlos Stefan, Van Maldergem Lionel, Morava Eva, Wollnik Bernd, Kornak Uwe

Abstract excerpt

Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. Here we describe 33 patients with PYCR1-related ARCL from 2...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Cutis Laxa

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Gene Order

Share to Genetic Association Studies

Share to Models, Molecular

Share to Protein Conformation

Source

Identifiers

PMID: 24035636
DOI: 10.1016/j.ymgme.2013.08.009

Genes

PYCR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24035636-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.PMID 24035636Read ↗

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

Mutations in PYCR1 cause cutis laxa with progeroid features.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 ↗

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

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

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

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.Semantic proximity Read ↗

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

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

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.Semantic proximity Read ↗

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

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