Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

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Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2007PNAS..10417447P
P356DOI10.1073/PNAS.0707173104
P932PMC publication ID2077276
P698PubMed publication ID17959774
P5875ResearchGate publication ID5885633

P50authorWilliam F. CrowleyQ30116265
Duarte PignatelliQ43796522
Chengkang ZhangQ58803608
Nelly PitteloudQ88221528
Lacey PlummerQ106489974
P2093author name stringTaneli Raivio
Qun-Yong Zhou
Jia-Da Li
Pamela L Mellon
Lindsay W Cole
Elka E Jacobson-Dickman
P2860cites workKallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2Q21092497
Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscleQ24290954
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding moleculesQ24311797
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadismQ24675675
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54Q24685744
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion moleculesQ28118633
Isolation and identification of EG-VEGF/prokineticins as cognate ligands for two orphan G-protein-coupled receptorsQ28203358
Identification and molecular characterization of two closely related G protein-coupled receptors activated by prokineticins/endocrine gland vascular endothelial growth factorQ28206106
The GPR54 gene as a regulator of pubertyQ28211950
Molecular cloning and characterization of prokineticin receptorsQ28214578
Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleusQ28509233
A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probesQ29615205
Quality control of mRNA functionQ34156109
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptorQ34446712
Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2Q34572987
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadismQ34597433
Minireview: recent progress in gonadotropin-releasing hormone neuronal migration.Q36350874
Dependence of olfactory bulb neurogenesis on prokineticin 2 signalingQ38324527
Structural determinants required for the bioactivities of prokineticins and identification of prokineticin receptor antagonistsQ44772896
Prokineticin 2 is a target gene of proneural basic helix-loop-helix factors for olfactory bulb neurogenesisQ46056823
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndromeQ48125476
Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null miceQ48432967
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working GroupQ48771295
Brain grafts reverse hypogonadism of gonadotropin releasing hormone deficiencyQ48920833
Identification and pharmacological characterization of prokineticin 2 beta as a selective ligand for prokineticin receptor 1.Q48964677
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeQ50336618
Clinical and laboratory heterogeneity in idiopathic hypogonadotropic hypogonadismQ67498899
P433issue44
P407language of work or nameEnglishQ1860
P921main subjectidiopathyQ594841
hypogonadismQ938107
Kallmann syndromeQ1165179
P304page(s)17447-17452
P577publication date2007-10-24
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleLoss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
P478volume104

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cites work (P2860)
Q24613193A genetic basis for functional hypothalamic amenorrhea
Q37616859Absence of central circadian pacemaker abnormalities in humans with loss of function mutation in prokineticin 2
Q36231696An ancient founder mutation in PROKR2 impairs human reproduction
Q28511610Axl and Tyro3 modulate female reproduction by influencing gonadotropin-releasing hormone neuron survival and migration
Q51963826Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
Q37553175Bv8/Prokineticins and their Receptors A New Pronociceptive System
Q24595634CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome
Q93036979Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells
Q35623991Clocks on top: the role of the circadian clock in the hypothalamic and pituitary regulation of endocrine physiology
Q35065543Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation
Q28394555Commentary: the year in endocrine genetics for basic scientists
Q35409577Critical role for prokineticin 2 in CNS autoimmunity
Q37223928Cytokine properties of prokineticins
Q24309428Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
Q28589834Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism
Q34162228Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions
Q92904097Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries
Q30356438Deletion of Vax1 from Gonadotropin-Releasing Hormone (GnRH) Neurons Abolishes GnRH Expression and Leads to Hypogonadism and Infertility.
Q51029666Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
Q87993928Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era
Q36433718Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.
Q34947403Disease-causing mutation in PKR2 receptor reveals a critical role of positive charges in the second intracellular loop for G-protein coupling and receptor trafficking
Q34214766Dysregulation of Semaphorin7A/β1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility
Q27000649Etiology and treatment of hypogonadism in adolescents
Q28265981Etiology and treatment of hypogonadism in adolescents
Q34628288Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism
Q28386577Expanding the phenotype and genotype of female GnRH deficiency
Q36544678Expression of prokineticin-receptor2(PK-R2) is a new prognostic factor in human colorectal cancer
Q35458207FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
Q37135450Female hypogonadism: evaluation of the hypothalamic-pituitary-ovarian axis
Q38353683Fezf1 is required for penetration of the basal lamina by olfactory axons to promote olfactory development
Q37681140Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism
Q34075966Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in trafficking
Q35256585G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease
Q37261655GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
Q38596690Gene Targeting in Neuroendocrinology
Q36100642Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
Q34191671Genetic counseling for isolated GnRH deficiency
Q33937715Genetic determinants of pubertal timing in the general population.
Q90569848Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
Q21296724Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes
Q34443063GnRH, anosmia and hypogonadotropic hypogonadism--where are we?
Q30424272GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
Q34433460Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive function
Q90405710Gonadotropin-releasing hormone neuron development in vertebrates
Q24307650Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
Q30370622Heterozygous deletion of ventral anterior homeobox (vax1) causes subfertility in mice
Q24628946Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons
Q33693788Human genetic disorders of axon guidance
Q44374594Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome
Q37417487Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
Q35126506Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland
Q89603411Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose
Q35580592Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network
Q79790438Kallmann syndrome
Q38078017Kallmann syndrome in women: from genes to diagnosis and treatment
Q50133432Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism
Q47716482Light-Dependent Regulation of Sleep and Wake States by Prokineticin 2 in Zebrafish
Q38218950Malformation syndromes associated with disorders of sex development
Q92220057Metformin Ameliorates Testicular Damage in Male Mice with Streptozotocin-Induced Type 1 Diabetes through the PK2/PKR Pathway
Q37071231Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Q37017449Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
Q24657612Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Q34146811Mutations in FEZF1 cause Kallmann syndrome
Q36938312Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Q24292996NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration
Q37466322Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Q34225321Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.
Q36672226New genes controlling human reproduction and how you find them
Q36284895Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
Q55006597Olfactory epithelium: Cells, clinical disorders, and insights from an adult stem cell niche.
Q35654194Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications
Q34093958Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
Q37015568Ontogenesis of gonadotropin-releasing hormone neurons: a model for hypothalamic neuroendocrine cell development.
Q36760693PROK2/PROKR2 Signaling and Kallmann Syndrome.
Q24317396PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
Q41874602Profiles of Periglomerular Cells in the Olfactory Bulb of Prokineticin Type 2 Receptor-deficient Mice
Q36413420Prokineticin 2 (PROK2) is an important factor for angiogenesis in colorectal cancer
Q33604579Prokineticin 2 is a hypothalamic neuropeptide that potently inhibits food intake
Q35887325Prokineticin 2 is an endangering mediator of cerebral ischemic injury
Q39663171Prokineticin-1/endocrine gland-derived vascular endothelial growth factor is a survival factor for human multiple myeloma cells
Q91317443Prokineticin-2 and ghrelin robustly influence the sexual and ingestive behaviors of female Syrian hamsters
Q37329938Prokineticin-2 upregulation during neuronal injury mediates a compensatory protective response against dopaminergic neuronal degeneration
Q38635211Prokineticins in central and peripheral control of human reproduction.
Q26823052Prokineticins: new regulatory peptides in human reproduction
Q45164304Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: correlation with a clinical smell test.
Q37130382Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men
Q36589407Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism
Q36141317Rites of passage through puberty: a complex genetic ensemble
Q28393740Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation
Q24307518SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
Q92992906Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
Q47729132Sexually dimorphic distribution of Prokr2 neurons revealed by the Prokr2-Cre mouse model
Q28540891Signaling role of prokineticin 2 on the estrous cycle of female mice
Q33984838TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood
Q52430839TBX20 Regulates Angiogenesis Through the PROK2-PROKR1 Pathway.
Q33424478Temporally regulated traffic of HuR and its associated ARE-containing mRNAs from the chromatoid body to polysomes during mouse spermatogenesis
Q92314899The PROK2/PROKR2 signaling pathway is required for the migration of most olfactory bulb interneurons
Q42645262The SRC homology 2 domain protein Shep1 plays an important role in the penetration of olfactory sensory axons into the forebrain.
Q33830319The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
Q34113064The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism
Q48727907The neurokinin B pathway in human reproduction
Q35551224The puzzles of the prokineticin 2 pathway in human reproduction
Q34262602The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism
Q28385113The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations
Q42694560The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs
Q42778008Transcription Factors Sp8 and Sp9 Coordinately Regulate Olfactory Bulb Interneuron Development
Q35757433Transcriptomic Analysis and Meta-Analysis of Human Granulosa and Cumulus Cells
Q30422142Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.
Q49437047Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism
Q36730242Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
Q36201503When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

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