Novel insights into the aetiology and pathogenesis of hypopituitarism

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Novel insights into the aetiology and pathogenesis of hypopituitarism is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1159/000080493
P8608Fatcat IDrelease_oiaswpcmajfktlhxbhc2hcar7u
P698PubMed publication ID15539793

P50authorMehul T DattaniQ88910677
P2860cites workMutations in PROP1 cause familial combined pituitary hormone deficiencyQ24308762
Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouseQ24311677
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 geneQ24314909
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunctionQ24322907
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseQ24323305
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humansQ24323379
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.Q24536132
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyQ24561792
Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesisQ24599714
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54Q24685744
Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell typesQ28137623
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 geneQ28139138
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletionQ28141280
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiencyQ28143870
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiencyQ28145571
Cretinism with combined hormone deficiency caused by a mutation in the PIT1 geneQ28207803
Signaling and transcriptional mechanisms in pituitary developmentQ28209918
A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteinsQ28210920
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor geneQ28237420
Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetryQ28279914
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiencyQ28283073
Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal functionQ28283866
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeQ28298470
Congenital leptin deficiency is associated with severe early-onset obesity in humansQ29618702
Septo-optic dysplasia/optic nerve hypoplasia: data from the National Cooperative Growth Study (NCGS).Q30700961
Early steps in pituitary organogenesisQ33650524
Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1Q33786584
Effects of recombinant leptin therapy in a child with congenital leptin deficiency.Q33874084
The molecular basis for developmental disorders of the pituitary gland in man.Q33942188
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent pubertyQ34099955
Pituitary development: regulatory codes in mammalian organogenesisQ34120136
Molecular basis of combined pituitary hormone deficienciesQ34146692
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patientQ34169421
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasiaQ34269693
Inherited disorders of GnRH and gonadotropin receptorsQ34289988
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiencyQ34649087
Signaling and transcriptional control of pituitary development.Q34801916
Paired-like repression/activation in pituitary developmentQ35149138
Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation.Q36860297
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like featuresQ37089385
Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.Q40675986
Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryoQ40922142
Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins.Q40966092
Signal-specific co-activator domain requirements for Pit-1 activationQ41006466
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 geneQ41714031
The molecular basis of hypopituitarismQ41745730
Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 geneQ42494231
Sequence, genomic organization, and expression of the novel homeobox gene Hesx1.Q42690918
A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.Q44282346
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfismQ44505357
The Ames dwarf gene is required for Pit-1 gene activation.Q44917596
Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.Q46317908
A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotypeQ46821977
Multistep control of pituitary organogenesisQ48577432
The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferationQ48851157
Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine developmentQ48893825
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasiaQ49120156
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressinQ50335646
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeQ50336618
The molecular genetics of growth hormone deficiencyQ57263871
P407language of work or nameEnglishQ1860
P304page(s)1-13
P577publication date2004-01-01
P1433published inHormone ResearchQ5903788
P1476titleNovel insights into the aetiology and pathogenesis of hypopituitarism
P478volume62 Suppl 3

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cites work (P2860)
Q42614850A coding SNP of LHX4 gene is associated with body weight and body length in bovine
Q54749620A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.
Q34486313Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene
Q24652885DNMT1 interacts with the developmental transcriptional repressor HESX1
Q36445327Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain
Q36147760Mendelian diseases and conditions in Croatian island populations: historic records and new insights
Q41698332Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
Q37026012Mutations along the hypothalamic-pituitary-gonadal axis affecting male reproduction
Q28255040Pituitary transcription factors: from congenital deficiencies to gene therapy
Q37723287Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea

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