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 …

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

A Vivante, S Kohl, DY Hwang, GC Dworschak… - Pediatric …, 2014 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of
structural malformations that result from defects in the morphogenesis of the kidney and/or …

Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast

AM Deutschbauer, DF Jaramillo, M Proctor, J Kumm… - Genetics, 2005 - academic.oup.com
Haploinsufficiency is defined as a dominant phenotype in diploid organisms that are
heterozygous for a loss-of-function allele. Despite its relevance to human disease, neither …

Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus

AA Khan, CA Koch, S Van Uum… - European Journal of …, 2019 - academic.oup.com
Purpose: To provide practice recommendations for the diagnosis and management of
hypoparathyroidism in adults. Methods: Key questions pertaining to the diagnosis and …

Hereditary deafness and phenotyping in humans

M Bitner-Glindzicz - British medical bulletin, 2002 - academic.oup.com
Hereditary deafness has proved to be extremely heterogeneous genetically with more than
40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal …

Role of the GATA family of transcription factors in endocrine development, function, and disease

RS Viger, SM Guittot, M Anttonen… - Molecular …, 2008 - academic.oup.com
The WGATAR motif is a common nucleotide sequence found in the transcriptional regulatory
regions of numerous genes. In vertebrates, these motifs are bound by one of six factors …

Parathyroid hormone is essential for normal fetal bone formation

D Miao, B He, AC Karaplis… - The Journal of clinical …, 2002 - Am Soc Clin Investig
Parathyroid hormone (PTH) is a potent pharmacologic inducer of new bone formation, but
no physiologic anabolic effect of PTH on adult bone has been described. We investigated …

Mutation of GATA3 in human breast tumors

J Usary, V Llaca, G Karaca, S Presswala, M Karaca… - Oncogene, 2004 - nature.com
GATA3 is an essential transcription factor that was first identified as a regulator of immune
cell function. In recent microarray analyses of human breast tumors, both normal breast …

The genetic basis of congenital anomalies of the kidney and urinary tract

M Kagan, O Pleniceanu, A Vivante - Pediatric Nephrology, 2022 - Springer
During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …

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 …