Results 121 to 130 of about 1,702,970 (343)

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

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]

, 2007
More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Annette Grüters, Buono, Christian Pitra, Claudia Stäubert, Cone, Haitina, Harald Brumm, Heike Biebermann, Hinney, Holger Römpler, Huszar, Jacobson, Kim, Larsen, Lubrano-Berthelier, Mergen, Patrick Tarnow, Ringholm, Salomon, Sangkuhl, Schioth, Schoneberg, Schoneberg, Schulz, Talbot, Tao, Tao, Tarnow, Thomas Gudermann, Torsten Schöneberg, Vaisse, VanLeeuwen, Xiang, Yeo, Yeo   +34 more
core   +1 more source

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

Advanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao, Lifang Guo, Guochao Yang, Chaoli Huang, He Wang, Jian‐Jun Yang, Guiquan Chen, Yimin Hu   +7 more
wiley   +1 more source

A missense mutation in growth differentiation factor 9 (GDF9) is strongly associated with litter size in sheep

BMC Genetics, 2013
BackgroundA genome wide association study for litter size in Norwegian White Sheep (NWS) was conducted using the recently developed ovine 50K SNP chip from Illumina.
D. I. Våge, Maren Husdal, M. Kent, G. Klemetsdal, I. A. Boman   +4 more
semanticscholar   +1 more source

β‐Adrenergic Signaling Promotes Anti‐Tumor Immunity in TP53‐mutant Oral Squamous Cell Carcinoma

Advanced Science, EarlyView.
β‐adrenergic stimulation enhances anti‐tumor immunity in TP53‐deficient oral squamous cell carcinoma by inducing tumor‐derived secretion of CXCL10, which attracts and activates cytotoxic CD8+ T cells. The findings demonstrate that β‐adrenergic signaling alters tumor–immune interactions via CXCL10‐mediated paracrine activation, revealing a neuro‐immune ...
Frederico O. Gleber‐Netto, Deborah Silverman, Tongxin Xie, Shamima Akhter, Nicole R. Vaughn, Adewale Adebayo, Kala Chand Debnath, Shorook Naara, Shajedul Islam, Erik Knutsen, Emily Lorin Ashkin, Simone Anfossi, Sara Leahey, Patrick Hwu, Sebastien Talbot, Erica K Sloan, Robert Saddawi‐Konefka, Roberto Rangel, Jeffrey N. Myers, George A. Calin, Moran Amit   +20 more
wiley   +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

The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma

BMC Cancer, 2017
Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura, Mizuo Ando, Yasuhiro Ebihara, Yuki Saito, Kenya Kobayashi, Osamu Fukuoka, Ken Akashi, Masafumi Yoshida, Takahiro Asakage, Tatsuya Yamasoba   +9 more
doaj   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features

PLoS ONE, 2013
Driver mutations are somatic mutations that provide growth advantage to tumor cells, while passenger mutations are those not functionally related to oncogenesis.
Yong Mao, Han Chen, Han Liang, F. Meric-Bernstam, G. Mills, Ken Chen   +5 more
semanticscholar   +1 more source