Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies

scientific article published on 18 December 2017

Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S11102-017-0850-6
P932PMC publication ID5767207
P698PubMed publication ID29255988

P50authorLaura C G de GraaffQ96254999
Anita Hokken-KoelegaQ110439807
P2093author name stringRobin P Peeters
Theo J Visser
Joyce Schuilwerve
Melitza Elizabeth
P2860cites workA mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiencyQ73196660
Panhypopituitarism: genetic versus acquired etiological factorsQ79813007
AP-1 and Oct-1 transcription factors down-regulate the expression of the human PIT1/GHF1 geneQ42527597
Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controlsQ43584609
Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genesQ44468739
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlatesQ47868967
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiencyQ48418100
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genesQ48454502
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerveQ48466800
Characterization of cis-regulatory elements of the homeobox gene Xanf-1.Q48592238
Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.Q48871210
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiencyQ48901276
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.Q49115420
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.Q53254800
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).Q53454845
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.Q54646297
Single-nucleotide variants in two Hedgehog genes,SHHandHHIP, as genetic cause of combined pituitary hormone deficiencyQ62080047
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiencyQ24658065
Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factorsQ26825648
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imagingQ28188314
Genetic regulation of pituitary gland development in human and mouseQ33590141
PROMO: detection of known transcription regulatory elements using species-tailored searchesQ34114282
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.Q34119879
Transcriptional control during mammalian anterior pituitary developmentQ35575317
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populationsQ35659075
Comparative genomics reveals functional transcriptional control sequences in the Prop1 geneQ36021378
Molecular physiology of pituitary development: signaling and transcriptional networksQ36872219
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiencyQ37852201
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.Q38543146
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarismQ39012754
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiencyQ39883314
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.Q41698332
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).Q42508824
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P304page(s)76-83
P577publication date2017-12-18
P1433published inPituitaryQ26842250
P1476titleGenetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies
P478volume21

Reverse relations

cites work (P2860)
Q64946519A Large PROP1 Gene Deletion in a Turkish Pedigree.
Q55050852Congenital hypopituitarism: how to select the patients for genetic analyses.
Q64039300Genetic analysis of adult slovenian patients with combined pituitary hormone deficiency
Q90290396Genetics of Growth Disorders-Which Patients Require Genetic Testing?
Q89860153Impact of Pituitary Autoimmunity and Genetic Disorders on Growth Hormone Deficiency in Children and Adults