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

[The metabolic and molecular bases of Cockayne syndrome].

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000

Flores-Alvarado Luis Javier, Ramirez-Garcia Sergio Alberto, Núñez-Reveles Nelly Yazmine

Abstract excerpt

Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, wizened face, sensorineural hearing loss, cataracts, dental caries, cardiac arrhythmias, hypertension, atherosclerosis, proteinuria, micropenis, renal failure, skeletal abnormalities, skin...

Read the complete abstract on PubMed

Topics

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

Share to Cockayne Syndrome
Share to DNA Repair Enzymes

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Endonucleases

Share to Growth Disorders

Share to Levodopa

Share to Photosensitivity Disorders

Share to Poly-ADP-Ribose Binding Proteins

Share to Xeroderma Pigmentosum Group D Protein

Source

Identifiers

PMID: 21416736

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[The metabolic and molecular bases of Cockayne syndrome].PMID 21416736Read ↗

Cockayne syndrome: the expanding clinical and mutational spectrum.Semantic proximity Read ↗

Cockayne syndrome: review of 140 cases.Semantic proximity Read ↗

[Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].Semantic proximity Read ↗

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?Semantic proximity Read ↗

Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.Semantic proximity Read ↗

Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.Semantic proximity Read ↗

Repair of oxidatively generated DNA damage in Cockayne syndrome.Semantic proximity Read ↗

Cockayne's syndrome: a case report. Literature review.Semantic proximity Read ↗

Disorders of nucleotide excision repair.Semantic proximity Read ↗

Cockayne Syndrome Group B Cellular and Biochemical FunctionsSemantic proximity Read ↗

The emerging role of Cockayne group A and B proteins in ubiquitin/proteasome-directed protein degradation.Semantic proximity Read ↗

Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations.Semantic proximity Read ↗

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