Results 21 to 30 of about 1,253,968 (181)

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Frontiers in Endocrinology, 2023
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene.
Catarina I. Gonçalves, Josianne N. Carriço, Omneya M. Omar, Ebtesam Abdalla, Manuel C. Lemos   +4 more
doaj   +1 more source

HDR UK Good Research Practice Policy

, 2023
<p>This policy has been designed to encourage good conduct in research so as to maximise the benefits of research for: researchers, patients, and the broader public.
HDR UK
core   +2 more sources

HDR syndrome in a Japanese girl with biliary atresia: a case report. [PDF]

BMC Pediatr, 2016
Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder. We report the first detailed case of hypoparathyroidism complicated by biliary atresia.A 1-year-old Japanese girl was admitted to our hospital for living donor liver transplantation.
Higuchi Y, Hasegawa K, Yamashita M, Fujii Y, Tanaka H, Tsukahara H.   +5 more
europepmc   +4 more sources

Novel splice site mutation in GATA3 in a patient with HDR syndrome. [PDF]

Clin Pediatr Endocrinol, 2017
This is an open access article under the CC BY-NC-ND license.
Matsuo K, Kobayashi A, Tanahashi Y, Maruyama S, Niitsu Y, Katsuta H, Furuya A, Suzuki S, Kawamura M, Azuma H.   +9 more
europepmc   +4 more sources

Amelioration of the Abnormalities Associated with Metabolic Syndrome by L-Norvaline in Hyperlipidemic Diabetic Rats

European Pharmaceutical Journal, 2022
The present study was designed to assess the treatment effect of arginase inhibitor, L-Norvaline in abnormalities associated with high fat diet (HFD) and fructose-induced metabolic syndrome.
Dobhal S., Baliyan S., Singh MF., Bisht S., Setya S.   +4 more
doaj   +1 more source

Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome [PDF]

Iranian Journal of Neonatology, 2018
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome.
shahin mafinejad, Hadi Khorsand Zak, Ghasem Bayani, Hojatollah Ehteshammanesh, Yasaman Bozorgnia   +4 more
doaj   +1 more source

The first Korean case of HDR syndrome confirmed by clinical and molecular investigation. [PDF]

Yonsei Med J, 2015
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15.
Cheon CK, Kim GH, Yoo HW.
europepmc   +3 more sources

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies. [PDF]

Br J Haematol
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Joshi G, Natarajan N, Dickerson KE, Voit RA.   +3 more
europepmc   +2 more sources

DataSheet2_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

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 [PDF]

Internal Medicine, 2017
Keiichi Tamagaki, Tetsuro Kusaba, Takeshi Usui   +2 more
exaly   +2 more sources