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

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

29 Sept 2008

Abstract excerpt

Kallmann syndrome (KS) combines hypogonadism due to gonadotropin-releasing hormone deficiency, and anosmia or hyposmia, related to defective olfactory bulb morphogenesis. In a large series of KS patients, ten different missense mutations (p.R85C, p.R85H, p.R164Q, p.L173R, p.W178S, p.Q210R, p.R268C, p.P290S, p.M323I, p.V331M) have been identified in the gene encoding the G protein-coupled receptor prokineticin...

Read the complete abstract on PubMed

Topics

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

Share to Hypothalamic control of reproductive hormones
Share to Neuropeptides and Animal Physiology
Share to Receptor Mechanisms and Signaling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18826963
DOI: 10.1093/hmg/ddn318

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activityPMID 18826963Read ↗

Biased signaling through G‐protein‐coupled PROKR2 receptors harboring missense mutationsSemantic proximity Read ↗

PROK2/PROKR2 Signaling and Kallmann SyndromeSemantic proximity Read ↗

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.Semantic proximity Read ↗

Kallmann syndrome with a Tyr113His PROKR2 mutation.Semantic proximity Read ↗

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann SyndromeSemantic proximity Read ↗

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.Semantic proximity Read ↗

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficienciesSemantic proximity Read ↗

Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor FunctionSemantic proximity Read ↗

Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.Semantic proximity Read ↗

PROKR2 mutations in autosomal recessive Kallmann syndrome.Semantic proximity Read ↗

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.Semantic proximity Read ↗

Genetic Analysis in Patients With Kallmann Syndrome: Coexistence of Mutations in Prokineticin Receptor 2 and <i>KAL1</i>Semantic proximity Read ↗

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