Results 91 to 100 of about 241,061 (333)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]

International Journal of Ophthalmology
AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen   +6 more
doaj   +1 more source

Effect of the R569W Missense Mutation on the Biosynthesis of Myeloperoxidase [PDF]

Journal of Biological Chemistry, 1996
Human neutrophil microbicidal activity is largely mediated by reactive species generated by the oxygen-dependent myeloperoxidase (MPO) system. Peroxidase-negative neutrophils from many patients with hereditary MPO deficiency possess a 90-kDa MPO-related protein.
William M. Nauseef, Sally McCormick, Melissa Cogley   +2 more
openaire   +3 more sources

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation

Molecular Genetics & Genomic Medicine, 2020
Background Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair.
Jing Liu, Yu Liu, Jingxuan Fu, Chengeng Liu, Tingting Yang, Xiaomin Zhang, Min Cao, Peichang Wang   +7 more
doaj   +1 more source

Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]

, 2016
Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai, Jablons, David M, Jen, Kuang-Yu, Jones, Kirk, Kang, Hio Chung, Kim, Hong Kwan, Kim, Il-Jin, Kim, James Wansoo, Lee, Sharon, Mendez, Pedro, Woodard, Gavitt, Yoon, Jun-Hee   +11 more
core   +3 more sources

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang, Da Lin, Dongyuan Liu, Dongxu Zhang, Hao Wang   +4 more
wiley   +1 more source

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

BMC Medical Genetics, 2017
Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung   +7 more
doaj   +1 more source

PAX6 mutations: genotype-phenotype correlations [PDF]

, 2005
BACKGROUND: The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye
Hanson, Isabel M, Tzoulaki, Ioanna, White, Ian MS   +2 more
core   +3 more sources

Pseudometabolic presentation of dystrophinopathy due to a missense mutation [PDF]

Muscle & Nerve, 2010
AbstractExercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading to delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys with exertional myalgia, muscle stiffness, myoglobinuria, and normal neurological examination
William Gallentine, Edward C. Smith, Kelly Schoch, Yong-hui Jiang, Aravindhan Veerapandiyan, Vandana Shashi   +5 more
openaire   +3 more sources