Associated Papers
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
Targeting the ATM-TRMT10A-BRCA1 axis confers synthetic lethality to PARP inhibition in metastatic castration-resistant prostate cancer.
Yang Y et al.
Science Advances, 2025
New Insights Into TRMT10A Syndrome: Case Report and Literature Review.
Ceraolo G et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025
Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.
Samhani C et al.
Diabetes & Metabolism, 2024
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
Şıklar Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pode-Shakked B et al.
Pediatric Nephrology (berlin, Germany), 2022
TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys
Stern E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.
Brener A et al.
Acta Diabetologica, 2022
Mechanistic features of the atypical tRNA m1G9 SPOUT methyltransferase, Trm10.
Krishnamohan A et al.
Nucleic Acids Research, 2017
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.
Yew TW et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2016
Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.
Zung A et al.
American Journal of Medical Genetics. Part A, 2015
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
Narayanan M et al.
F1000research, 2015
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.
Gillis D et al.
Journal of Medical Genetics, 2014