GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
about
Parathyroid hormone is essential for normal fetal bone formationDoes GATA3 act in tissue-specific pathways? A meta-analysis-based approachGATA3 controls the specification of prosensory domain and neuronal survival in the mouse cochleaGATA3 haploinsufficiency does not block allergic sensitization or atopic disease.Auditory and vestibular phenotypes associated with GATA3 mutation.Seizure, deafness and renal agenesis: A rare case of barakat syndromeMutation of GATA3 in human breast tumors.HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis.Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeastThe juvenile alopecia mutation (jal) maps to mouse Chromosome 2, and is an allele of GATA binding protein 3 (Gata3).The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.Dosage-dependent rescue of definitive nephrogenesis by a distant Gata3 enhancerTransactivation of human osteoprotegerin promoter by GATA-3The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.Dynamic Expression of Sox2, Gata3, and Prox1 during Primary Auditory Neuron Development in the Mammalian Cochlea.Role of the GATA family of transcription factors in endocrine development, function, and diseaseA Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes.A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia SyndromeDifferential regulation of osteoblast activity by Th cell subsets mediated by parathyroid hormone and IFN-gamma.Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia SyndromeVesicoureteric reflux and reflux nephropathy: from mouse models to childhood disease.A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.Seizure, deafness, and renal failure: a case of barakat syndrome.Novel splice site mutation in GATA3 in a patient with HDR syndrome.Using mouse models to understand normal and abnormal urogenital tract development.Spectrum of neurodevelopmental disabilities: a cohort study in hungary.Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.Clinicopathological analysis of GATA3-positive breast cancers with special reference to response to neoadjuvant chemotherapy.
P2860
Q24551862-3E2ACE78-C269-4E08-A1B5-89E2D3A7736AQ24658279-A8C1F195-E71C-4533-83C7-EED8C4E85556Q28290503-48917FF1-3F61-45A0-B9B0-EE5C32A4EC04Q30278844-4BCD4F3A-93B0-473B-BD90-973C08F00BF4Q33940407-4E6F69C3-CBBB-4DD5-BF56-5825F0B36564Q34343964-94EF48E7-9314-4B7E-83D5-E11C7A08265EQ34347579-893DF296-103F-4E10-B8A0-0AC8763F7F62Q34550019-AC274201-9F32-4F7B-B8ED-308719BA5117Q34572690-F98B2F81-190B-40A6-BC1E-4AA8C36F1871Q34713739-7C678925-AAB2-4552-A43F-12F3C047234DQ34774210-F2F62B03-59EE-4F4E-8274-C52362384D24Q35419786-A904BD3D-8901-46BA-82B6-8933FF2A41ACQ35765736-8644A21F-A345-40A4-AF10-94F3C1A3E82BQ35894918-4F0F2B4D-1BC4-4339-A464-7E7CA7781AEFQ36038835-13E6F0B3-0BA3-4D80-8D87-E698AF9082C3Q36258767-D0F8166E-A89B-4C1E-8CB8-7154CA1633EAQ36512426-3089A6AE-4443-4924-8B6A-F8BAEA8D0120Q36715998-F7F9658C-3390-4D78-91E1-596FF90A0020Q36722560-FFCFB207-43C2-49FC-93A1-504D563A63B9Q37110173-B8BAF9F0-B386-47E5-B0D5-8B10EB4D65D1Q37137802-6A46097E-03F7-4F1A-9AFB-DE228C0024DAQ37711664-48BCE3FC-8C3C-4A5E-AFDD-65CF9E298202Q38185597-4336DBCE-AD64-4E53-A81F-FC575CCAE312Q38485133-E02125B8-47DB-44DD-89B0-4DC3F5937BDFQ38888919-049A80A4-C84F-4A0D-82D4-05F42DC896D1Q40958907-D53DC5A2-12DD-4E85-BE76-B29747F57DC9Q41915016-4F794F6C-FF97-439D-AECE-5B6B52C12458Q42281611-BF086B52-EDD5-47C3-AE7F-243D61A1DB73Q43158375-1F402D63-1C8D-47AF-8721-645067E56025Q44244898-F68A18B8-D84A-4E61-B8BB-B136A852591BQ44777473-2F55CA48-789B-4BB1-8C7B-13560B0A1AECQ46774319-A5658AA8-0690-4DC9-9CB7-7815D5E371F6Q50358207-7599D323-656E-4DDF-A14B-DA32F5826B4EQ50434627-E09EB4F7-D015-493B-86B1-F2E0C75DA1F0Q53320739-E4A52876-07BF-4438-A2DA-3086A46C7C43Q54194664-D9C0748A-DDBC-4AE9-A5F2-C0C51BE598F0Q54499346-88718324-0F6A-4A26-9760-80405F6A71DC
P2860
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@ast
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@en
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@nl
type
label
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@ast
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@en
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@nl
prefLabel
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@ast
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@en
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@nl
P2093
P356
P1476
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
@en
P2093
K Yamamoto
S Fujimoto
T Hasegawa
Y Fukushima
P304
P356
10.1136/JMG.38.6.374
P407
P577
2001-06-01T00:00:00Z