Results 151 to 160 of about 113,215 (275)

LIN‐24 as a Molecular Switch: Dual Cytotoxic and Cytoprotective Roles of an Aerolysin‐Like Protein in C. elegans

Journal of Applied Toxicology, EarlyView.
ABSTRACT LIN‐24, an aerolysin‐like pore‐forming protein in Caenorhabditis elegans, exemplifies how ancient cytolytic mechanisms have evolved into regulated cellular processes. Initially identified for inducing nonapoptotic, engulfment‐dependent cell death in vulval precursor cells, LIN‐24 has emerged as a multifunctional regulator of metabolism, stress
Sharoen Yu Ming Lim
wiley   +1 more source

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity [PDF]

, 2018
Carla S. D’Angelo, Monica Castro Varela, Cláudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Pérez, Charles Marques Lourenço, Chong Ae Kim, Débora Romeo Bertola, Fernando Kok, Luis García‐Alonso, Célia Priszkulnik Koiffmann   +10 more
openalex   +1 more source

Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators [PDF]

, 2023
Guanhua Qian, Liuyun Cai, Hong Yao, Xiaojing Dong   +3 more
openalex   +1 more source

Software and methods for oligonucleotide and cDNA array data analysis. [PDF]

, 2002
Two HTML-based programs were developed to analyze and filter gene-expression data: 'Bullfrog' for Affymetrix oligonucleotide arrays and 'Spot' for custom cDNA arrays. The programs provide intuitive data-filtering tools through an easy-to-use interface. A
Barlow, Carrolee, Garcia, Anthony J, Lockhart, Daniel J, Lockhart, David J, Pankratz, Daniel G, Zapala, Matthew A   +5 more
core   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Microarray Analysis of Rat Chromosome 2 Congenic Strains [PDF]

, 2003
Martin McBride, Fiona J. Carr, Delyth Graham, Niall Anderson, James S. Clark, Wai Lee, Fadi J. Charchar, M. Julia Brosnan, Anna F. Dominiczak   +8 more
openalex   +1 more source

Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables

, 2014
In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Chromosomal microarray analysis in prenatal diagnosis [PDF]

, 2017
Yingjun Xie, Xiaofang Sun
openalex   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source