Results 51 to 60 of about 4,883 (116)

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

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
Aravindhan, Veerapandiyan, Vandana, Shashi, Yong-Hui, Jiang, William Brian, Gallentine, Kelly, Schoch, Edward Clinton, Smith   +5 more
openaire   +2 more sources

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

GJC2 Missense Mutations Cause Human Lymphedema [PDF]

The American Journal of Human Genetics, 2010
Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema.
Ferrell, Robert E., Baty, Catherine J., Kimak, Mark A., Karlsson, Jenny M., Lawrence, Elizabeth C., Franke-Snyder, Marlise, Meriney, Stephen D., Feingold, Eleanor, Finegold, David N.   +8 more
openaire   +2 more sources

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Case Reports in Genetics, 2017
Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen   +5 more
doaj   +1 more source

Generation of Casp8FL122/123GG Mice Using CRISPR-Cas9 Technology

STAR Protocols, 2020
Summary: The purpose of this protocol is to describe the generation of missense mutations in mice using CRISPR-Cas9 technology. The current protocol focuses on the generation of a Casp8FL122/123GG missense mutation, but it can be adapted to introduce any
Stephane Pelletier, Bart Tummers, Douglas R. Green   +2 more
doaj   +1 more source

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype

Hereditas
Background Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu, Liping Zheng, Zhehao Dai, Jun Zhu, Peng Xie, Shun Yang, Fei Chen   +6 more
doaj   +1 more source

A Retrospective Study of the Correlation Between Next-Generation Sequencing and Immunohistochemical Detection of TP53 in Colorectal Cancer

Technology in Cancer Research & Treatment
Introduction This retrospective study aimed to investigate the correlation between TP53 identified via next-generation sequencing (NGS) and p53 expression in colorectal adenocarcinoma (CRC), as assessed by immunohistochemistry (IHC).
Jingjing Wu PhD, Haifeng Yu BM, Shanshan Huang MS, Xiangna Chen MS   +3 more
doaj   +1 more source

MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA

Pakistan Armed Forces Medical Journal, 2018
Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz, Nasrullah Khan, Agha Muhammad Raza, Nisar Ahmed, Jamil Ahmad   +4 more
doaj  

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source