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

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

The Journal of clinical investigation - 1 Jun 2015

Cariboni Anna, André Valentina, Chauvet Sophie, Cassatella Daniele, Davidson Kathryn, Caramello Alessia, Fantin Alessandro, Bouloux Pierre, Mann Fanny, Ruhrberg Christiana

Abstract excerpt

Individuals with an inherited deficiency in gonadotropin-releasing hormone (GnRH) have impaired sexual reproduction. Previous genetic linkage studies and sequencing of plausible gene candidates have identified mutations associated with inherited GnRH deficiency, but the small number of affected families and limited success in validating candidates have impeded genetic diagnoses for most patients. Using a...

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion Molecules, Neuronal
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycoproteins

Share to Gonadotropin-Releasing Hormone

Share to Kallmann Syndrome

Share to Mice, Mutant Strains

Share to Phosphatidylinositol 3-Kinases

Share to Semaphorins

Source

Open in PubMed Open full text

Identifiers

PMID: 25985275
DOI: 10.1172/JCI78448
PMCID: PMC4497752

Genes

PLXND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.PMID 25985275Read ↗

Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadismSemantic proximity Read ↗

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.Semantic proximity Read ↗

PLXNA1 and PLXNA3 cooperate to pattern the nasal axons that guide gonadotropin-releasing hormone neurons.Semantic proximity Read ↗

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.Semantic proximity Read ↗

Transcriptomic profiling of murine GnRH neurons reveals developmental trajectories linked to human reproductionSemantic proximity Read ↗

Combined omic analyses reveal novel loss-of-function <i>NLGN3</i> variants in GnRH deficiency and autismSemantic proximity Read ↗

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiencySemantic proximity Read ↗

Semaphorin Signaling in the Development and Function of the Gonadotropin Hormone-Releasing Hormone SystemSemantic proximity Read ↗

Fertility and fragrance: another cause of Kallmann syndrome.Semantic proximity Read ↗

MKRN3 Interacts With Several Proteins Implicated in Puberty Timing but Does Not Influence GNRH1 ExpressionSemantic proximity Read ↗

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.Semantic proximity Read ↗

Inactivating PLEKHA6 Mutations Cause Idiopathic Hypogonadotropic Hypogonadism Through Impaired Kisspeptin SecretionSemantic proximity Read ↗

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