Clinical manifestations of impaired GnRH neuron development and function (Q37078042)

18 August 2017

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title

Clinical manifestations of impaired GnRH neuron development and function (English)

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18 August 2017

Hyung-Goo Kim

1

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PubMed ID

18253056

18 August 2017

Balasubramanian Bhagavath

series ordinal

2

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PubMed ID

18253056

18 August 2017

Lawrence C Layman

series ordinal

3

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18 August 2017

5 February 2008

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18 August 2017

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18 August 2017

16

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18 August 2017

165-182

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18 August 2017

2-3

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Molecular mechanisms of gonadotropin-releasing hormone neuronal migration

18 August 2017

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Netrin 1-mediated chemoattraction regulates the migratory pathway of LHRH neurons

21 January 2018

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Immortalization of hypothalamic GnRH neurons by genetically targeted tumorigenesis

21 January 2018

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Migratory arrest of gonadotropin-releasing hormone neurons in transgenic mice

21 January 2018

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A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant

21 January 2018

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Hypogonadotropic hypogonadism

21 January 2018

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Reversal of idiopathic hypogonadotropic hypogonadism

21 January 2018

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Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.

21 January 2018

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Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

21 January 2018

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The genetics of hypogonadotropic hypogonadism

21 January 2018

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Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

21 January 2018

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

21 January 2018

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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

21 January 2018

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Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

21 January 2018

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GnRH neuronal development: insights into hypogonadotrophic hypogonadism

21 January 2018

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Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.

21 January 2018

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Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.

21 January 2018

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Kallmann syndrome: adhesion, afferents, and anosmia

21 January 2018

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The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

21 January 2018

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KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

21 January 2018

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Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

21 January 2018

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X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

21 January 2018

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Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.

21 January 2018

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Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

21 January 2018

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X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

21 January 2018

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

21 January 2018

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Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

21 January 2018

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Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.

21 January 2018

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A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism

21 January 2018

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Developmental regulation of gonadotropin-releasing hormone neurons by fibroblast growth factor signaling.

21 January 2018

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Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population

21 January 2018

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Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

21 January 2018

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Antley-Bixler syndrome with radioulnar synostosis

21 January 2018

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An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly

21 January 2018

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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 January 2018

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Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

21 January 2018

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A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

21 January 2018

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The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred

21 January 2018

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Complete Hypogonadotropic Hypogonadism Associated with a Novel Inactivating Mutation of the Gonadotropin-Releasing Hormone Receptor

21 January 2018

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A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.

21 January 2018

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Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals

21 January 2018

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Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor

21 January 2018

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Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

21 January 2018

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Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site

21 January 2018

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Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function

21 January 2018

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A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

21 January 2018

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Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction

21 January 2018

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Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

21 January 2018

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GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone

21 January 2018

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Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect

21 January 2018

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Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

21 January 2018

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The GPR54 gene as a regulator of puberty

21 January 2018

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Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism.

21 January 2018

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Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

21 January 2018

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Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.

21 January 2018

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Kisspeptin in reproduction

21 January 2018

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Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54.

21 January 2018

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Laser-captured single digoxigenin-labeled neurons of gonadotropin-releasing hormone types reveal a novel G protein-coupled receptor (Gpr54) during maturation in cichlid fish

21 January 2018

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Repetitive activation of hypothalamic G protein-coupled receptor 54 with intravenous pulses of kisspeptin in the juvenile monkey (Macaca mulatta) elicits a sustained train of gonadotropin-releasing hormone discharges

21 January 2018

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Peripheral administration of metastin induces marked gonadotropin release and ovulation in the rat.

21 January 2018

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Kisspeptin-54 stimulates the hypothalamic-pituitary gonadal axis in human males

21 January 2018

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Regulation of Kiss1 gene expression in the brain of the female mouse.

21 January 2018

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Differential regulation of KiSS-1 mRNA expression by sex steroids in the brain of the male mouse

21 January 2018

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Human leptin levels are pulsatile and inversely related to pituitary-adrenal function.

21 January 2018

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KiSS-1 neurones are direct targets for leptin in the ob/ob mouse.

21 January 2018

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Recombinant human leptin in women with hypothalamic amenorrhea.

21 January 2018

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Leptin activation of Stat3 in the hypothalamus of wild-type and ob/ob mice but not db/db mice

21 January 2018

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Congenital leptin deficiency is associated with severe early-onset obesity in humans

21 January 2018

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A leptin missense mutation associated with hypogonadism and morbid obesity.

21 January 2018

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Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

21 January 2018

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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

21 January 2018

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Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults

21 January 2018

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Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

21 January 2018

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

21 January 2018

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DAX1 mutations map to putative structural domains in a deduced three-dimensional model

21 January 2018

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Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene.

21 January 2018

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Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.

21 January 2018

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Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

21 January 2018

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Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.

21 January 2018

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An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

21 January 2018

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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

21 January 2018

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The role of SF1/DAX1 in adrenal and reproductive function

21 January 2018

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Role of Ahch in gonadal development and gametogenesis

21 January 2018

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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

21 January 2018

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Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function

21 January 2018

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Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

21 January 2018

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

21 January 2018

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Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

21 January 2018

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Hesx1 homeodomain protein represses transcription as a monomer and antagonises transactivation of specific sites as a homodimer.

21 January 2018

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Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging

21 January 2018

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Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia

21 January 2018

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Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

21 January 2018

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Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg->Cys at Codon 120 (R120C)

21 January 2018

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The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency

21 January 2018

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Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

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A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty

21 January 2018

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Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism.

21 January 2018

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The Ames dwarf gene is required for Pit-1 gene activation.

21 January 2018

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Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

21 January 2018

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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

21 January 2018

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SOX3 is required during the formation of the hypothalamo-pituitary axis

21 January 2018

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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

21 January 2018

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LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes

21 January 2018

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Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

21 January 2018

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A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.

21 January 2018

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Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.

21 January 2018

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Luteinizing hormone beta mutation and hypogonadism in men and women.

21 January 2018

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Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene

21 January 2018

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Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone

21 January 2018

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Analysis of the Cys82Arg mutation in follicle-stimulating hormone beta (FSHbeta) using a novel FSH expression vector

21 January 2018

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Effect of follicle-stimulating hormone on ovarian androgen production in a woman with isolated follicle-stimulating hormone deficiency.

21 January 2018

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The role of LH and FSH in ovarian androgen secretion and ovarian follicular development: clinical studies in a patient with isolated FSH deficiency and multicystic ovaries

21 January 2018

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

21 January 2018

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

21 January 2018

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

21 January 2018

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CHARGE syndrome: an update

21 January 2018

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Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

21 January 2018

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Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

21 January 2018

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Olfactory evaluation in children: application to the CHARGE syndrome.

21 January 2018

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CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

21 January 2018

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Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.

21 January 2018

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Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

21 January 2018

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

21 January 2018

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Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2

21 January 2018

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Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

21 January 2018

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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

21 January 2018

1 reference

Two Novel Mutations in the Gonadotropin-Releasing Hormone Receptor Gene in Brazilian Patients with Hypogonadotropic Hypogonadism and Normal Olfaction

21 January 2018

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Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers

21 January 2018

1 reference

Kisspeptin Activation of Gonadotropin Releasing Hormone Neurons and Regulation of KiSS-1 mRNA in the Male Rat

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000111561

1 reference

18 August 2017

1 reference

PubMed ID

18253056