Results 161 to 170 of about 173,415,106 (290)

Improved genotype inference reveals cis- and trans-driven variation in the loss-of-heterozygosity rates in yeast. [PDF]

Genetics
Overton MS, Kryazhimskiy S.
europepmc   +1 more source

CaMKIIδ Phosphorylates AUP1 to Promote Pancreatic Tissue Repair and Acinar‐to‐Ductal Metaplasia Formation via Mediating PERK‐Dependent Unfolded Protein Responses

Advanced Science, EarlyView.
CaMKIIδ–AUP1 signaling maintains PERK‐dependent ER homeostasis during ADM‐mediated pancreatic repair. ABSTRACT Pancreatic repair after acute pancreatitis (AP) is essential for restoring tissue integrity, but the intrinsic mechanisms coordinating acinar plasticity and regeneration remain poorly understood.
Yonghao Chen, Ziying Han, Zihan Yang, Jie Wu, Kaixin Peng, Xiuli Zhang, Bintao Qiu, Jianqiang Wu, Xiaomin Hu, Dong Wu, Li Wen   +10 more
wiley   +1 more source

Chromosome 1p and 6q Loss of Heterozygosity in Meningioma: A Comprehensive Analysis of the Two Chromatin Remodeling Complex Subunits ARID1A and ARID1B. [PDF]

Cancers (Basel)
Hinsberger M, Becker-Kettern J, Jürgens-Wemheuer WM, Bartelmei K, Ketter R, Oertel J, Schulz-Schaeffer WJ.   +6 more
europepmc   +1 more source

Evolution of loss of heterozygosity patterns in hybrid genomes of Candida yeast pathogens. [PDF]

BMC Biol, 2023
Mixão V, Nunez-Rodriguez JC, Del Olmo V, Ksiezopolska E, Saus E, Boekhout T, Gacser A, Gabaldón T.   +7 more
europepmc   +1 more source

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

Estimating the distribution of fitness effects of loss of heterozygosity (LOH) events using an engineered library of Saccharomyces cerevisiae. [PDF]

PLoS Genet
Ke YH, Orozco-Quime M, Bauman J, Carvalho T, Landry GA, Ge S, Kumar A, James TY.   +7 more
europepmc   +1 more source

3p14 Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Gain and Loss of Heterozygosity in the Genome of the Asexual Nematode Halicephalobus mephisto. [PDF]

J Mol Evol
Amini A, Bracht JR.
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source