scholarly article | Q13442814 |
P50 | author | Brooke Tata | Q55712563 |
Nicolas de Roux | Q55712564 | ||
lukas huijbregts | Q58200188 | ||
Emmanuelle Génin | Q66311067 | ||
P2093 | author name string | Perrine Charles | |
Zsolt Csaba | |||
Jean-Claude Carel | |||
Vincent Meyer | |||
Juliane Léger | |||
Sandrine Jacquier | |||
Didier Chevenne | |||
Sofia Leka | |||
Joelle Dupont | |||
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Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome | Q24542360 | ||
Rabconnectin-3 is a functional regulator of mammalian Notch signaling | Q24621274 | ||
From nose to brain: development of gonadotrophin-releasing hormone-1 neurones | Q24633621 | ||
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome | Q24643797 | ||
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54 | Q24685744 | ||
Rabconnectin-3a regulates vesicle endocytosis and canonical Wnt signaling in zebrafish neural crest migration | Q27315048 | ||
Skp1 forms multiple protein complexes, including RAVE, a regulator of V-ATPase assembly | Q27936413 | ||
The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion | Q28119024 | ||
The GPR54 gene as a regulator of puberty | Q28211950 | ||
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk | Q28270700 | ||
Interactions between kisspeptins and neurokinin B | Q28288195 | ||
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome | Q28306313 | ||
Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3 | Q28510800 | ||
A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter | Q28573784 | ||
Epigenetic control of female puberty | Q28574550 | ||
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Rabconnectin3α promotes stable activity of the H+ pump on synaptic vesicles in hair cells | Q30458329 | ||
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Metformin decreases GnRH- and activin-induced gonadotropin secretion in rat pituitary cells: potential involvement of adenosine 5' monophosphate-activated protein kinase (PRKA). | Q54637789 | ||
Inactivating KISS1 mutation and hypogonadotropic hypogonadism | Q55671569 | ||
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Nestin-Cre transgenic mouse line Nes-Cre1 mediates highly efficient Cre/loxP mediated recombination in the nervous system, kidney, and somite-derived tissues | Q58379792 | ||
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Secretory granule exocytosis | Q34186796 | ||
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion | Q34319297 | ||
A GDP/GTP exchange protein for the Rab3 small G protein family up-regulates a postdocking step of synaptic exocytosis in central synapses | Q34394872 | ||
Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive function | Q34433460 | ||
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor | Q34446712 | ||
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction | Q34902985 | ||
Compound deficiencies in multiple fibroblast growth factor signalling components differentially impact the murine gonadotrophin-releasing hormone system | Q35007272 | ||
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy | Q35204958 | ||
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy | Q35542161 | ||
Onset of Pup Locomotion Coincides with Loss of NR2C/D-Mediated Cortico-Striatal EPSCs and Dampening of Striatal Network Immature Activity. | Q35565288 | ||
The roles of Rab27 and its effectors in the regulated secretory pathways | Q35639602 | ||
DLK1 is a somato-dendritic protein expressed in hypothalamic arginine-vasopressin and oxytocin neurons | Q35918116 | ||
Identification of synaptic proteins and their isoform mRNAs in compartments of pancreatic endocrine cells | Q35986944 | ||
Kisspeptin neurons from mice to men: similarities and differences. | Q36323161 | ||
Rab3GEP is the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes. | Q36838770 | ||
The vacuolar proton pump, V-ATPase, is required for notch signaling and endosomal trafficking in Drosophila | Q37378404 | ||
New concepts on the control of the onset of puberty. | Q37643174 | ||
A review of current large-scale mouse knockout efforts | Q37679774 | ||
Clinical genetics of Kallmann syndrome | Q37723693 | ||
Complex genetics in idiopathic hypogonadotropic hypogonadism | Q37730385 | ||
Glutamate regulation of GnRH neuron excitability | Q37784277 | ||
Kisspeptins and reproduction: physiological roles and regulatory mechanisms | Q38027482 | ||
RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. | Q38061994 | ||
Glucose Sensitivity and Metabolism-Secretion Coupling Studied during Two-Year Continuous Culture in INS-1E Insulinoma Cells | Q42798453 | ||
Expression of the transcription factor Zfp191 during embryonic development in the mouse | Q46838648 | ||
The role of Rab3A in neurotransmitter release | Q48106348 | ||
Presence of the vesicular inhibitory amino acid transporter in GABAergic and glycinergic synaptic terminal boutons | Q48276508 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | haploinsufficiency | Q852654 |
Dmx-like 2 | Q21498313 | ||
P304 | page(s) | e1001952 | |
P577 | publication date | 2014-09-23 | |
P1433 | published in | PLOS Biology | Q1771695 |
P1476 | title | Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse | |
P478 | volume | 12 |
Q39362520 | A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. |
Q41221537 | A genomic lifespan program that reorganises the young adult brain is targeted in schizophrenia |
Q94305254 | A small population of hypothalamic neurons govern fertility: the critical role of VAX1 in GnRH neuron development and fertility maintenance |
Q91599473 | Autozygome and high throughput confirmation of disease genes candidacy |
Q36355992 | DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation |
Q92904097 | Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries |
Q87993928 | Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era |
Q36433718 | Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era. |
Q64266010 | Dual role of DMXL2 in olfactory information transmission and the first wave of spermatogenesis |
Q45327140 | Dynamic Regulation of Hypothalamic DMXL2, KISS1, and RFRP Expression During Postnatal Development in Non-Human Primates |
Q34486033 | Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment |
Q59138519 | Genes underlying delayed puberty |
Q90569848 | Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease |
Q93111990 | Interactions of Rabconnectin-3 with Cav2 calcium channels |
Q50133432 | Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism |
Q37648530 | Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness |
Q61797922 | Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders |
Q64974374 | The priming factor CAPS1 regulates dense-core vesicle acidification by interacting with rabconnectin3β/WDR7 in neuroendocrine cells. |
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