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Table1_A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.xlsx

, 2023
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Yilun Tao (11429791), Wenxia Song (480265), Lin Yang (45852), Dong Han (199240), Xiaoze Li (456068), Haiwei Wang (6864011), Lihong Wang (14991), Chen Zhao (225070)   +7 more
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Hypoparathyroidism, deafness and renal dysplasia syndrome with bilateral cataract and bicornuate uterus caused by a de novo GATA3 mutation [PDF]

Exploration of Endocrine and Metabolic Diseases
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare genetic disorder caused by haploinsufficiency of the GATA3 gene. A very limited number of cases have been reported in the literature to date.
Rajesh Chetiwal, Amit Kumar, Shweta Tanwar, Priyank Rastogi   +3 more
doaj   +1 more source

Table3_A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.doc

, 2023
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Yilun Tao (11429791), Wenxia Song (480265), Wenxia Song, Xiaoze Li (456068), Haiwei Wang, Dong Han, Lihong Wang (14991), Chen Zhao, Lin Yang (45852), Lihong Wang, Dong Han (199240), Lin Yang, Haiwei Wang (6864011), Yilun Tao, Chen Zhao (225070), Xiaoze Li   +15 more
core   +1 more source

Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology

Stem Cell Research & Therapy, 2022
Background Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder which is caused by genetic defects involving the Nipped-B-like protein (NIPBL) gene in the majority of clinical cases (60–70%).
Alessandro Umbach, Giulia Maule, Eyemen Kheir, Alessandro Cutarelli, Marika Foglia, Luca Guarrera, Luca L. Fava, Luciano Conti, Enrico Garattini, Mineko Terao, Anna Cereseto   +10 more
doaj   +1 more source

A Unique Genomic Variant of HDR Syndrome in Newborn

Indian Pediatrics, 2018
HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.A male preterm infant presented with multiple dysmorphic features characterized by small for gestational age, hypognathia and facial abnormalities.Investigations revealed hypocalcemia ...
Ramesh, Vidavalur, Srisatish, Devapatla
openaire   +2 more sources

GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice

Neurobiology of Disease, 2005
Human HDR (hypoparathyroidism, deafness and renal dysplasia)-syndrome is caused by haploinsufficiency of zinc-finger transcription factor GATA3. The hearing loss due to GATA3 haploinsufficiency has been shown to be peripheral in origin, but it is unclear
M.A.J. van Looij, H. van der Burg, R.S. van der Giessen, M.M. de Ruiter, J. van der Wees, J.H. van Doorninck, C.I. De Zeeuw, G.A. van Zanten   +7 more
doaj   +1 more source

Table2_A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.xlsx

, 2023
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Yilun Tao (11429791), Wenxia Song (480265), Lin Yang (45852), Dong Han (199240), Xiaoze Li (456068), Haiwei Wang (6864011), Lihong Wang (14991), Chen Zhao (225070)   +7 more
core   +1 more source

Mitigating Coronavirus-Induced Acute Respiratory Distress Syndrome by Radiotherapy

iScience, 2020
The acute respiratory distress syndrome (ARDS) induced by SARS-CoV-2-mediated cytokine storm (CS) in lungs leads to the high mortality in COVID-19 patients.
Jian Jian Li
doaj   +1 more source

DataSheet1_A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.PDF

, 2023
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Yilun Tao (11429791), Wenxia Song (480265), Lin Yang (45852), Dong Han (199240), Xiaoze Li (456068), Haiwei Wang (6864011), Lihong Wang (14991), Chen Zhao (225070)   +7 more
core   +1 more source

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

BMC Endocrine Disorders, 2019
Background Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Anne D. D. Joseph, Nirmala D. Sirisena, Thirunavukarasu Kumanan, Vathualan Sujanitha, Veronika Strelow, Raina Yamamoto, Stefan Wieczorek, Vajira H. W. Dissanayake   +7 more
doaj   +1 more source