Results 51 to 60 of about 1,253,968 (181)

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome [PDF]

Journal of Biological Chemistry, 2004
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. The C-terminal zinc finger (ZnF2) binds DNA, whereas the N-terminal finger (ZnF1) stabilizes this DNA binding and interacts with other zinc finger proteins, such as the Friends ...
Nesbit, M A, Bowl, M R, Harding, B, Ali, A, Ayala, A, Crowe, C, Dobbie, A, Hampson, G, Holdaway, I, Levine, M A, McWilliams, R, Rigden, S, Sampson, J, Williams, A J, Thakker, R V   +14 more
openaire   +3 more sources

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome

IJU Case Reports, 2020
Introduction Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an autosomal dominant rare genetic disease. Some patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome may present with renal ...
Nobutaka Nishimura, Shunta Hori, Chihiro Omori, Makito Miyake, Satoshi Anai, Kazumasa Torimoto, Katsuya Aoki, Nobumichi Tanaka, Tatsuo Yoneda, Kiyohide Fujimoto   +9 more
doaj   +1 more source

HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.

, 2016
Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3, a dual zinc-finger transcription factor involved in vertebrate embryonic ...

core   +1 more source

Compromised DNA replication in gut cells underlies sensitivity to genotoxic stress in the tardigrade Hypsibius exemplaris

The FEBS Journal, EarlyView.
DNA damage in the tardigrade Hypsibius exemplaris elicits distinct cellular outcomes depending on replication status. While non‐replicating cells tolerate genotoxic stress, constitutively replicating cells undergo irreversible replication failure upon DNA damage, leading to loss of tissue homeostasis, fat depletion, sterility, and organismal death ...
Gonzalo Quiroga‐Artigas, Pauline Fontanié, Benjamin Lacroix, Maria Dolores Molina, María Moriel‐Carretero   +4 more
wiley   +1 more source

Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder

Neurobiology of Disease, 2004
Patients with HDR syndrome suffer from hypoparathyroidism, deafness, and renal dysplasia due to a heterozygous deletion of the transcription factor GATA3.
Jacqueline van der Wees, Marjolein A.J van Looij, M.Martijn de Ruiter, Helineth Elias, Hans van der Burg, Su-San Liem, Dorota Kurek, J.Doug Engel, Alar Karis, Bert G.A van Zanten, Chris I De Zeeuw, Frank G Grosveld, J.Hikke van Doorninck   +12 more
doaj   +1 more source

Smartphone‐Based Teledentistry to Support Clinical Triage and Risk‐Informed Dental Care in Patients With Inherited Bleeding and Haemoglobin Disorders: A Cross‐Sectional Diagnostic Agreement Study

Haemophilia, EarlyView.
ABSTRACT Introduction Patients with inherited bleeding and haemoglobin disorders face barriers to accessing timely dental care, increasing the risk of untreated oral disease and complications related to invasive procedures. Aim To evaluate the agreement between smartphone‐based asynchronous teledentistry and face‐to‐face examination for oral conditions,
Victor Cordeiro da Silva, Carolina Mendes Frusca do Monte, Leandro Tavares da Silva, Gabriela Silva Almeida, Claudia Santos Lorenzato, José Vitor Nogara Borges de Menezes, Fabian Calixto Fraiz, Cassius Carvalho Torres‐Pereira   +7 more
wiley   +1 more source

Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation

Endocrine Journal, 2010
We report on a Japanese girl with HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome who developed diabetes mellitus (DM) at three years of age (blood glucose 713 mg/dL, HbA(1c) 8.0%) in the absence of anti-glutamic acid decarboxylase autoantibodies. Mutation analysis revealed a de novo heterozygous two base pair deletion at
MUROYA, Koji, MOCHIZUKI, Takahiro, FUKAMI, Maki, ISO, Manami, FUJITA, Keinosuke, ITAKURA, Mitsuo, OGATA, Tsutomu   +6 more
openaire   +3 more sources