A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

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A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1210/JC.2008-1189
P932PMC publication ID2582563
P698PubMed publication ID18728160
P5875ResearchGate publication ID23194856

P50authorIan MarshallQ43131794
P2093author name stringSally Radovick
Janice Zunich
Christopher Romero
Daniel Diaczok
P2860cites workMutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseQ24323305
A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalitiesQ24514980
Heterozygous mutations of OTX2 cause severe ocular malformationsQ24530768
A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryoQ24564561
Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survivalQ24595086
Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesisQ24599714
Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressorsQ24674174
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interactionQ24681401
OTX2 directly interacts with LIM1 and HNF-3betaQ28141989
OTX2 activates the molecular network underlying retina pigment epithelium differentiationQ28187080
The pituitary-specific transcription factor GHF-1 is a homeobox-containing proteinQ28283838
Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissuesQ28294656
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeQ28298470
Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland developmentQ28505275
Otx2 regulates subtype specification and neurogenesis in the midbrainQ28505456
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasiaQ32062498
Temporal and spatial delineation of mouse Otx2 functions by conditional self-knockoutQ33250360
Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalitiesQ33596773
The molecular basis for developmental disorders of the pituitary gland in man.Q33942188
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
P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1.Q34496854
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalitiesQ34561635
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarismQ34587897
Gene expression profiles in normal and Otx2-/- early gastrulating mouse embryosQ35844183
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarismQ36793669
Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalkQ40798851
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.Q41918689
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfismQ44505357
A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotypeQ46821977
Equivalence of the fly orthodenticle gene and the human OTX genes in embryonic brain development of Drosophila.Q47071571
Involvement of Pax6 and Otx2 in the forebrain-specific regulation of the vertebrate homeobox gene ANF/Hesx1.Q47694207
Rpx: a novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo.Q48067978
Cell autonomous and non-cell autonomous functions of Otx2 in patterning the rostral brain.Q48118664
Structural evolution of Otx genes in craniates.Q48347889
Nested expression domains of four homeobox genes in developing rostral brainQ48444447
Expression of the Otx2 homeobox gene in the developing mammalian brain: embryonic and adult expression in the pineal glandQ48617694
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.Q52012746
Specification of the vertebrate eye by a network of eye field transcription factors.Q52101071
Mouse Otx2 functions in the formation and patterning of rostral head.Q52205211
The orthodenticle gene encodes a novel homeo domain protein involved in the development of the Drosophila nervous system and ocellar visual structures.Q52447895
Forebrain and midbrain regions are deleted in Otx2−/− mutants due to a defective anterior neuroectoderm specification during gastrulationQ54602798
Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse Chromosome 2Q57268786
A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brainQ70910667
P433issue11
P407language of work or nameEnglishQ1860
P304page(s)4351-9
P577publication date2008-11-01
P1433published inThe Journal of Clinical Endocrinology and MetabolismQ3186902
P1476titleA novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency
P478volume93

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cites work (P2860)
Q48234928A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
Q37452630A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction
Q35553223Candidate genes for panhypopituitarism identified by gene expression profiling
Q37483886Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
Q30848681Combined pituitary hormone deficiency: current and future status
Q92039578Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells
Q36807457Deletion of OTX2 in neural ectoderm delays anterior pituitary development
Q34856444Deletion of Otx2 in GnRH neurons results in a mouse model of hypogonadotropic hypogonadism
Q90260818Development of the Pituitary Gland
Q35573283Eye development genes and known syndromes
Q38543146Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
Q30410828Gene dosage of Otx2 is important for fertility in male mice.
Q36501132Genetic mechanisms mediating kisspeptin regulation of GnRH gene expression
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Q58095416Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia
Q91814280Haploinsufficiency of Homeodomain Proteins Six3, Vax1, and Otx2 Causes Subfertility in Mice via Distinct Mechanisms
Q48019368Human adipose-derived mesenchymal stem cells can survive and integrate into the adult rat eye following xenotransplantation.
Q51067413Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
Q51489703Kisspeptin Induces Dynamic Chromatin Modifications to Control GnRH Gene Expression.
Q47229935Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights
Q38132737Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
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Q37964618Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
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Q26785331Recent advances in central congenital hypothyroidism
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Q37905532The role of homeodomain transcription factors in heritable pituitary disease
Q34033813The use of neuroimaging for assessing disorders of pituitary development.
Q36311356Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

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