Results 141 to 150 of about 122,769 (286)

GOF/LOF knowledge inference with tensor decomposition in support of high order link discovery for gene, mutation and disease

, 2019
Kaiyin Zhou, YuxingWang, Sheng Zhang, Mina Gachloo, Jin-Dong Kim, Qi Luo, Kevin Bretonnel Cohen, Jingbo Xia   +7 more
openalex   +1 more source

Treatment Response and Outcomes of Prostate Cancer Patients Carrying the Germline MMS22L F722fs Mutation

The Prostate, Volume 86, Issue 6, Page 727-731, May 2026.
ABSTRACT Background Methyl Methanesulfonate‐Sensitivity Protein 22‐Like (MMS22L) plays a key role in homology‐directed DNA repair, and experimental models have shown that its loss confers sensitivity to Poly (ADP‐ribose) polymerase inhibitors (PARPi).
Mayuko Kanayama, Violet A. Daniels, Marta Gielzak, Alex Brame, Misop Han, Li Jia, Jianfeng Xu, Tamara L. Lotan, Mario A. Eisenberger, Catherine H. Marshall, Patrick C. Walsh, William B. Isaacs, Jun Luo   +12 more
wiley   +1 more source

Pertumbuhan dan Produksi Rumput Odot (Pennisetum purpureum cv. Mott) pada Tanah Entisol di Lahan Kering Akibat Pemberian Pupuk Organik Cair Berbahan Feses Babi Dengan Volume Air Berbeda

Jurnal Ilmu Peternakan Terapan, 2019
This study aims to examine the growth and production of odot grass (Pennisetum purpureum cv. Mott) on entisol soils with different amounts of water volume in Liquid Organic Fertilizer (LOF) made of pig feces.
Celeste De Araujo, Maria Yasinta Un, Bernadete Barek Koten, Melkianus D. S. Randu, Redempta Wea   +4 more
doaj  

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 947-951, April 2026.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Prognostic Implication of CYP2C19 Genotype According to Clinical Risk Stratification After Drug‐Eluting Stent Implantation

Clinical Pharmacology &Therapeutics, Volume 119, Issue 4, Page 928-941, April 2026.
From the nationwide multicenter consortium, 8,163 patients undergoing drug‐eluting stent implantation were classified according to the presence of the CYP2C19 loss‐of‐function (LoF) allele: rapid or normal metabolizers (RMs/NMs) vs. intermediate or poor metabolizers (IMs/PMs), and clinical risk was stratified using the CHADS‐P2A2RC and TRS 2°P scores ...
Hyun Woong Park, Jae‐Hwan Lee, Jin‐Ok Jeong, Diana A. Gorog, Udaya S. Tantry, Byeong‐Keuk Kim, Hyung Joon Joo, Kiyuk Chang, Jin‐Yong Hwang, Young Bin Song, Sung Gyun Ahn, Jung‐Won Suh, Woong Gil Choi, Jung Rae Cho, Jeehoon Kang, Sang Yeub Lee, Hyo‐Soo Kim, Moo Hyun Kim, Do‐Sun Lim, Eun‐Seok Shin, Paul A. Gurbel, Young‐Hoon Jeong, on behalf of the PTRG‐DES Consortium Investigators   +22 more
wiley   +1 more source

“Teníamos todas las posibilidades de ser lo que nosotros quisiéramos”: trayectorias y experiencias políticas de algunos integrantes del consejo Pu Werken Lof Budi

, 2023
Victor Caniuñir, Marco Bizama, Gonzalo Díaz Crovetto   +2 more
openalex   +2 more sources

Lower Dose‐Normalized Tacrolimus Exposure in CYP3A5*6 vs. *3 Loss‐of‐Function Allele Carriers: A Longitudinal Retrospective Real‐World Study in Kidney Transplant Recipients

Clinical Pharmacology &Therapeutics, Volume 119, Issue 4, Page 942-952, April 2026.
Pharmacogenomic research has historically focused on individuals of European ancestry, leading to the underrepresentation of genetic variants common in non‐European populations. This bias is exemplified by CYP3A5*6, a functionally consequential variant common in individuals of African ancestry (MAF: 11–19%) but virtually absent in Europeans (MAF: 0.15%)
Amar D. Levens, Dirk Jan A. R. Moes, Yanick Boer, Aiko P. J. de Vries, Dorottya K. de Vries, Danny van der Helm, Soufian Meziyerh, Dave L. Roelen, Stefan Böhringer, Teun Van Gelder, Jesse J. Swen   +10 more
wiley   +1 more source

Cross‐scale interactions mediate local drivers of nonnative species richness

Ecography, Volume 2026, Issue 4, April 2026.
Many well‐supported hypotheses seek to explain drivers of nonnative species richness across spatial scales, but evidence for common patterns among regions and taxa remains inconclusive. This study investigates why consistent patterns are elusive by estimating and assessing cross‐scale interactions, wherein large‐scale factors contextualize patterns ...
Lily M. Thompson, William K. Annis, Stephen R. Midway, Julian D. Olden, Brandon K. Peoples   +4 more
wiley   +1 more source

Hybrid Model using LOF and iForest Algorithms for Detection of Insider Threats [PDF]

, 2023
Anvita Mahajan
openalex   +1 more source