Results 141 to 150 of about 1,648 (159)

Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss

Cerebellum
Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology.
Anish Mehta, Purushottam T Acharya
exaly   +3 more sources

Pnpt1 and Pcgf3 Variants Associated with Angiotensin-Converting Enzyme Inhibitor-Induced Cough: a Nested Case–Control Genome-Wide Study

Pharmacogenomics, 2020
Aim: We aimed to identify genetic variants associated with ACE inhibitor (ACEI)-induced cough. Materials & methods: A nested case-control study was performed among hypertensive Chinese patients receiving enalapril-only therapy. Whole-exome sequencing and genome-wide association analysis were performed. Results: We identified that PNPT1 rs13015243 (odds
Guangyan Mu, Qian Xiang, Zhuo Zhang, Chengzhang Liu, Hanxu Zhang, Zhiyan Liu, Xiaocong Pang, Jie Jiang, Qiufen Xie, Shuang Zhou, Zining Wang, Kun Hu, Zhe Wang, Shanqun Jiang, Xianhui Qin, Yimin Cui   +15 more
openaire   +2 more sources

Clinical Value of Circ-PNPT1 on Adverse Pregnancy Outcomes of Patients with Gestational Diabetes Mellitus

Endocrine, Metabolic & Immune Disorders - Drug Targets
Objective: Several circular RNAs are associated with important pathophysiological characteristics of gestational diabetes mellitus (GDM). This study intended to measure the expression of circ-PNPT1 in sera of GDM patients and to expound on its values on pregnancy outcomes.
Song, Wang, Yixiong, Lin, Qing, Li, Zhijian, Wang   +3 more
openaire   +2 more sources

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination

Clinical Genetics, 2017
Recent studies suggest that impaired transcription or mitochondrial translation of small RNAs can cause abnormal myelination. A polynucleotide phosphorylase (PNPase) encoded by PNPT1 facilitates the import of small RNAs into mitochondria. PNPT1 mutations have been reported in patients with neurodevelopmental diseases with mitochondrial dysfunction.
R. Sato, N. Arai‐Ichinoi, A. Kikuchi, T. Matsuhashi, Y. Numata‐Uematsu, M. Uematsu, Y. Fujii, K. Murayama, A. Ohtake, T. Abe, S. Kure   +10 more
openaire   +2 more sources

Phenotypic Spectrum of PNPT1: Interferonopathy or Not?

Neuropediatrics, 2021
D. C. Schorling, R. Kaur, S. Donkervoort, C. G. Bönnemann, A. Lee-Kirsch, J. Kirschner, M. Eckenweiler, W. G. Janzarik   +7 more
openaire   +1 more source

PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

Annals of human genetics, 2022
The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four South Indian assortative mating families.
Paridhy, Vanniya S, Jayasankaran, Chandru, Justin Margret, Jeffrey, Tom, Rabinowitz, Zippora, Brownstein, Mathuravalli, Krishnamoorthy, Karen B, Avraham, Le, Cheng, Noam, Shomron, C R Srikumari, Srisailapathy   +9 more
openaire   +1 more source

Concurrent SCN1a and PNPT1 Mutations in a Young Male: A Case Report (P3-3.019)

Neurology
Rachel Green, Lauren Osborne, Amy Brown
exaly   +2 more sources

Ocular Manifestations of PNPT1-Related Neuropathy

Journal of Neuro-Ophthalmology, 2020
Helen J, Kuht, Kevin A, Thomas, Michael, Hisaund, Gail D E, Maconachie, Mervyn G, Thomas   +4 more
openaire   +2 more sources

Novel PNPT1-ALK fusion variant exerted significant benefit to crizotinib in NSCLC

Lung Cancer, 2020
Linling, Jin, Yanli, Wang, Si, Li, Dongsheng, Chen, Xin, Zhao   +4 more
openaire   +2 more sources

Difficult-to-PiNPoinT Fatal Hyperammonemia Possibly Secondary to Mutation in PNPT1 Gene

A47. AUTOIMMUNITY, RHEUMATOLOGY, AND THERMOREGULATION: CASE REPORTS, 2023
K.A. Darragh, E. Pott, G. Wardi, W.C. Mcguire   +3 more
openaire   +1 more source