scholarly article | Q13442814 |
P50 | author | Ian Marshall | Q43131794 |
P2093 | author name string | Sally Radovick | |
Janice Zunich | |||
Christopher Romero | |||
Daniel Diaczok | |||
P2860 | cites work | Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 |
A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities | Q24514980 | ||
Heterozygous mutations of OTX2 cause severe ocular malformations | Q24530768 | ||
A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo | Q24564561 | ||
Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival | Q24595086 | ||
Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis | Q24599714 | ||
Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors | Q24674174 | ||
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction | Q24681401 | ||
OTX2 directly interacts with LIM1 and HNF-3beta | Q28141989 | ||
OTX2 activates the molecular network underlying retina pigment epithelium differentiation | Q28187080 | ||
The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein | Q28283838 | ||
Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues | Q28294656 | ||
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome | Q28298470 | ||
Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development | Q28505275 | ||
Otx2 regulates subtype specification and neurogenesis in the midbrain | Q28505456 | ||
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia | Q32062498 | ||
Temporal and spatial delineation of mouse Otx2 functions by conditional self-knockout | Q33250360 | ||
Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities | Q33596773 | ||
The molecular basis for developmental disorders of the pituitary gland in man. | Q33942188 | ||
Molecular basis of combined pituitary hormone deficiencies | Q34146692 | ||
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient | Q34169421 | ||
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia | Q34269693 | ||
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 abnormalities | Q34561635 | ||
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism | Q34587897 | ||
Gene expression profiles in normal and Otx2-/- early gastrulating mouse embryos | Q35844183 | ||
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism | Q36793669 | ||
Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk | Q40798851 | ||
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 dwarfism | Q44505357 | ||
A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype | Q46821977 | ||
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 brain | Q48444447 | ||
Expression of the Otx2 homeobox gene in the developing mammalian brain: embryonic and adult expression in the pineal gland | Q48617694 | ||
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 gastrulation | Q54602798 | ||
Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse Chromosome 2 | Q57268786 | ||
A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain | Q70910667 | ||
P433 | issue | 11 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 4351-9 | |
P577 | publication date | 2008-11-01 | |
P1433 | published in | The Journal of Clinical Endocrinology and Metabolism | Q3186902 |
P1476 | title | A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency | |
P478 | volume | 93 |
Q48234928 | A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency |
Q37452630 | A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction |
Q35553223 | Candidate genes for panhypopituitarism identified by gene expression profiling |
Q37483886 | Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center |
Q30848681 | Combined pituitary hormone deficiency: current and future status |
Q92039578 | Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells |
Q36807457 | Deletion of OTX2 in neural ectoderm delays anterior pituitary development |
Q34856444 | Deletion of Otx2 in GnRH neurons results in a mouse model of hypogonadotropic hypogonadism |
Q90260818 | Development of the Pituitary Gland |
Q35573283 | Eye development genes and known syndromes |
Q38543146 | Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. |
Q30410828 | Gene dosage of Otx2 is important for fertility in male mice. |
Q36501132 | Genetic mechanisms mediating kisspeptin regulation of GnRH gene expression |
Q33590141 | Genetic regulation of pituitary gland development in human and mouse |
Q47285150 | Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies |
Q38797075 | Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. |
Q58095416 | Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia |
Q91814280 | Haploinsufficiency of Homeodomain Proteins Six3, Vax1, and Otx2 Causes Subfertility in Mice via Distinct Mechanisms |
Q48019368 | Human adipose-derived mesenchymal stem cells can survive and integrate into the adult rat eye following xenotransplantation. |
Q51067413 | Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. |
Q51489703 | Kisspeptin Induces Dynamic Chromatin Modifications to Control GnRH Gene Expression. |
Q47229935 | Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights |
Q38132737 | Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations |
Q88605919 | Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism |
Q21090627 | OTX2 duplication is implicated in hemifacial microsomia |
Q34474376 | OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype |
Q38354597 | Otx2 induction of the gonadotropin-releasing hormone promoter is modulated by direct interactions with Grg co-repressors |
Q37964618 | Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). |
Q90540512 | Pituitary Transcription Factor Mutations Leading to Hypopituitarism |
Q26825648 | Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factors |
Q33687947 | Pituitary gland development and disease: from stem cell to hormone production |
Q43750873 | Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis |
Q26785331 | Recent advances in central congenital hypothyroidism |
Q43536332 | Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly |
Q37456706 | The molecular basis of hypopituitarism |
Q37905532 | The role of homeodomain transcription factors in heritable pituitary disease |
Q34033813 | The use of neuroimaging for assessing disorders of pituitary development. |
Q36311356 | Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss |
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