Results 191 to 200 of about 2,723,058 (227)

Molecular Analysis of the GATA3 Gene in Five Japanese Patients With HDR Syndrome

Endocrine Journal, 2011
GATA3 is a member of the GATA family of transcription factors. Heterozygous GATA3 abnormalities are associated with hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR syndrome). However, this triad of symptoms does not occur in all HDR patients and other clinical features may be present in some cases.
Akie Nakamura, Yukihiro Hasegawa, Keisuke Nagasaki   +2 more
exaly   +4 more sources

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Gene Expression Analysis of Gata3−/− Mice by Using cDNA Microarray Technology

Life Sciences, 2005
Transcription factor Gata3 is implicated in the formation of autosomal dominant hypoparathyroidism, sensorineural deafness, and renal anomaly (HDR) syndrome. We pursued to identify the potential Gata3 target genes by profiling the gene expression pattern in E9.5 Gata3-/- mouse embryos.
Rannar Airik, Alar Karis
exaly   +3 more sources

Gata3 Cooperates With Gcm2 and MafB to Activate Parathyroid Hormone Gene Expression by Interacting With SP1

Molecular and Cellular Endocrinology, 2015
Haploinsufficiency of the Gata3 gene, which encodes a zinc-finger transcription factor, is associated with the disorder hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome in humans. However, the roles of Gata3 in transcriptional regulation in the parathyroid glands are not well-understood.
Kohsuke Kataoka, Song-Iee Han, Yukino Tsunekage   +2 more
exaly   +3 more sources

HDR syndrome: A novel “de novo” mutation in GATA3 gene

American Journal of Medical Genetics Part A, 2009
Abstract Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome. The development of a specific subset of organs in which this transcription factor is expressed appears exquisitely sensitive to gene dosage.
Ferraris S, Del Monaco AG, GARELLI, Emanuela, CARANDO, Adriana, De Vito B, Pappi P, Lala R, Ponzone A.   +7 more
openaire   +3 more sources

A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism

Journal of Bone and Mineral Metabolism, 2008
Hypoparathyroidism is a disease characterized by hypocalcemia and hyperphosphatemia derived from deficient actions of parathyroid hormone (PTH). We report the case of 43-year-old Japanese man with PTH-deficient hypoparathyroidism introduced to an endocrinologist in our hospital.
Tasuku, Saito, Seiji, Fukumoto, Nobuaki, Ito, Hisanori, Suzuki, Takashi, Igarashi, Toshiro, Fujita   +5 more
openaire   +2 more sources

Abundant expression of Kallikrein 1 gene in human keratinocytes was mediated by GATA3

Gene, 2009
Among Tissue kallikrein genes (KLKs), KLK1 is abundantly expressed in human skin. Although its putative promoter is known to have various cis-elements, they have not been functionally tested. In the present study, the regulation mechanism of KLK1 promoter supporting such abundant expression was examined.
Do Ngoc, Son, LiHua, Li, Hironobu, Katsuyama, Nahoko, Komatsu, Masayuki, Saito, Hideji, Tanii, Kiyofumi, Saijoh   +6 more
openaire   +2 more sources

Investigating Gata3 as a positional candidate gene for allergic asthma in a murine model

International Journal of Immunogenetics, 2006
Summary Gata3 is a positional candidate gene for allergic asthma. We determined allergen‐induced GATA‐3 mRNA and protein expression in asthma susceptible and resistant mice and generated Gata3 sequence data. Our data indicate that the Gata3 gene in isolation is not a causative agent of asthma susceptibility in our model.
X, Li, M, Wills-Karp, S, Ewart
openaire   +2 more sources

Growth hormone induces GATA3 gene expression via STAT5B

Growth Factors
GATA proteins have been proposed as regulators of adipogenesis. In particular, GATA2 and GATA3 have been demonstrated to function in preadipocytes, and their behavior in response to extracellular signals allows preadipocytes to transition into adipocytes in mammals. However, few reports have discussed the extracellular stimulators of both GATAs.
Mana, Mitsutani, Hiromi, Hano, Mei, Yokoyama, Midori, Matsushita, Tomomi, Fujikawa, Tetsuya, Tagami, Kenji, Moriyama   +6 more
openaire   +2 more sources

Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia

Pediatric Nephrology, 2011
We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium ...
Amar, Al-Shibli, Ibrahim, Al Attrach, Patrick J, Willems   +2 more
openaire   +2 more sources

Polymorphic CT Dinucleotide Repeat in the GATA3 Gene and Risk of Breast Cancer in Iranian Women

Medical Oncology, 2013
GATA3 is an enriched transcription factor in mammary epithelium. To date, there has been no study on the relationship between microsatellites in the GATA3 gene and breast cancer risk. In this study, we investigated the existence of polymorphisms in the cytosine-thymine (CT) dinucleotide repeat in intron 3 of the GATA3 gene and its association with ...
Manoochehr Tavassoli
exaly   +3 more sources