Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

scientific article

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PBIO.1001952
P932PMC publication ID4172557
P698PubMed publication ID25248098
P5875ResearchGate publication ID266027070

P50authorBrooke TataQ55712563
Nicolas de RouxQ55712564
lukas huijbregtsQ58200188
Emmanuelle GéninQ66311067
P2093author name stringPerrine Charles
Zsolt Csaba
Jean-Claude Carel
Vincent Meyer
Juliane Léger
Sandrine Jacquier
Didier Chevenne
Sofia Leka
Joelle Dupont
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Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeQ24643797
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54Q24685744
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The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusionQ28119024
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Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive functionQ34433460
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproductionQ34902985
Compound deficiencies in multiple fibroblast growth factor signalling components differentially impact the murine gonadotrophin-releasing hormone systemQ35007272
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophyQ35204958
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyQ35542161
Onset of Pup Locomotion Coincides with Loss of NR2C/D-Mediated Cortico-Striatal EPSCs and Dampening of Striatal Network Immature Activity.Q35565288
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The vacuolar proton pump, V-ATPase, is required for notch signaling and endosomal trafficking in DrosophilaQ37378404
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Glucose Sensitivity and Metabolism-Secretion Coupling Studied during Two-Year Continuous Culture in INS-1E Insulinoma CellsQ42798453
Expression of the transcription factor Zfp191 during embryonic development in the mouseQ46838648
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Presence of the vesicular inhibitory amino acid transporter in GABAergic and glycinergic synaptic terminal boutonsQ48276508
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue9
P407language of work or nameEnglishQ1860
P921main subjecthaploinsufficiencyQ852654
Dmx-like 2Q21498313
P304page(s)e1001952
P577publication date2014-09-23
P1433published inPLOS BiologyQ1771695
P1476titleHaploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse
P478volume12

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cites work (P2860)
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Q37648530Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness
Q61797922Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
Q64974374The priming factor CAPS1 regulates dense-core vesicle acidification by interacting with rabconnectin3β/WDR7 in neuroendocrine cells.

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