The emerging role of GATA transcription factors in development and disease

MHFM Lentjes, HEC Niessen, Y Akiyama… - Expert reviews in …, 2016 - cambridge.org
The GATA family of transcription factors consists of six proteins (GATA1-6) which are
involved in a variety of physiological and pathological processes. GATA1/2/3 are required …

Th1/Th2 cell's function in immune system

Y Zhang, Y Zhang, W Gu, L He, B Sun - T helper cell differentiation and …, 2014 - Springer
CD4+ T helper cells regulate appropriate cellular and humoral immune responses to a wide
range of pathogens and get involved in many diseases progress. The balance of the earliest …

Barakat syndrome revisited

AJ Barakat, M Raygada… - American Journal of …, 2018 - Wiley Online Library
Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man
[OMIM] 146255), was first described by Barakat et al. in. It is a rare genetic disorder …

Etiologies of uterine malformations

A Jacquinet, D Millar, A Lehman - American Journal of Medical …, 2016 - Wiley Online Library
Ranging from aplastic uterus (including Mayer–Rokitansky–Kuster–Hauser syndrome) to
incomplete septate uterus, uterine malformations as a group are relatively frequent in the …

Hypoparathyroidism: genetics and diagnosis

M Mannstadt, L Cianferotti, RI Gafni… - Journal of Bone and …, 2020 - academic.oup.com
This narrative report summarizes diagnostic criteria for hypoparathyroidism and describes
the clinical presentation and underlying genetic causes of the nonsurgical forms. We …

The syndrome of hypoparathyroidism, deafness, and renal anomalies

J Upadhyay, DW Steenkamp, JM Milunsky - Endocrine Practice, 2013 - Elsevier
Objective We review the syndrome of hypoparathyroidism, deafness, and renal anomalies
(HDR syndrome). Methods The current understanding and relevant literature pertaining to …

Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding

A Chenouard, B Isidor, E Allain-Launay… - European journal of …, 2013 - Springer
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal abnormalities)(OMIM#
146265) is a rare autosomal dominant disorder caused by mutations in the GATA-3 gene …

HDR syndrome in a Japanese girl with biliary atresia: a case report

Y Higuchi, K Hasegawa, M Yamashita, Y Fujii… - BMC pediatrics, 2016 - Springer
Background Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR)
syndrome is an autosomal dominant disorder. We report the first detailed case of …

A novel frameshift variant of GATA3 (p. Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family

Y Hasegawa, T Segawa, A Chida, E Yoshida… - Endocrine …, 2024 - jstage.jst.go.jp
HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism
(H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene …

[PDF][PDF] A novel de novo GATA binding protein 3 mutation in a Turkish boy with hypoparathyroidism, deafness, and renal dysplasia syndrome

GY Mutlu, H Kırmızıbekmez… - Journal of Clinical …, 2015 - jag.journalagent.com
Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a
rare disease, inherited dominantly and found to be related with GATA3 (GATA binding …