Results 171 to 180 of about 640,277 (286)

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK. [PDF]

J Clin Immunol, 2023
Keller B, Kfir-Erenfeld S, Matusewicz P, Hartl F, Lev A, Lee YN, Simon AJ, Stauber T, Elpeleg O, Somech R, Stepensky P, Minguet S, Schraven B, Warnatz K.   +13 more
europepmc   +1 more source

Nonsense Mutation in <i>USH2A</i> Exon-13 Activates the Innate Immune Response in Müller Glial Cells. [PDF]

Int J Mol Sci
Valenzano R, Lu X, McDonald A, Moustakas I, Menafra R, Mulder AA, Koning RI, Kloet SL, Yang J, Mei H, Wijnholds J.   +10 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Tetrahedral DNA nanostructure-delivered suppressor tRNA ameliorates nephropathy in <i>COL4A5</i> nonsense mutation-mediated Alport syndrome mice. [PDF]

NAR Mol Med
Lv J, Li Y, Hong D, Shen Y, Mi Z, Liang Q, Zheng Z, Kong B, Gao W, Dou Z, Tian S, Xia Q.   +11 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Novel Nonsense Mutation in <i>SMARCD2</i> Gene Results in Dysplasia of All Myeloid Cell Lines. [PDF]

EJHaem
Brouwer MAE, Arensman A, Taal HR, Buddingh EP, Sun SM, Hulsmann A, Waals-Prinzen L.   +6 more
europepmc   +1 more source

Global Real‐World Outcomes of Olaparib in Metastatic Castration‐Resistant Prostate Cancer Patients With Homologous Recombination Repair Alterations

International Journal of Cancer, EarlyView.
ABSTRACT Evidence to guide the treatment for patients with metastatic castration‐resistant prostate cancer (mCRPC) and Homologous Recombination Repair (HRR) gene alterations outside of clinical trials remains limited. This was an observational, cohort study, including mCRPC patients with tumor harboring HRR alterations, progressed on a prior androgen ...
Lorena Incorvaia, Daniele Santini, Marc R. Matrana, Marco Maruzzo, Ray Manneh Kopp, Lorenzo Antonuzzo, Sergio Bracarda, Deniz Tural, Giuseppe Procopio, Maria T. Bourlon, Orazio Caffo, Martin Ignacio Zapata Laguado, Massimo Di Maio, Brigida Anna Maiorano, Vincenza Conteduca, Sabrina Rossetti, Helga Lipari, Thomas Büttner, Mimma Rizzo, Yüksel Ürün, Carlo Messina, Fernando Sabino Marques Monteiro, Andrey Soares, Mattia Puglisi, Alice Principi, Eleonora Lai, Giulia Mammone, Marco Stellato, Ilaria Depetris, Tancredi Didier Bazan Russo, Isadora Yasbick Spricido, Camila Bobato Lara Gismondi, Francesco Massari, Nicola Pavan, Matteo Santoni, Tarek Taha   +35 more
wiley   +1 more source

A Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report. [PDF]

J Clin Med
Cai B, Lv D, Luo X, Zhou L.
europepmc   +1 more source

Deciphering transcriptome complexity via long‐read sequencing

iMeta, EarlyView.
Long‐read sequencing is transforming transcriptomics from gene‐level quantification to isoform‐resolved interpretation by directly resolving full‐length transcript structures, transcription in repetitive regions, and linked molecular features. This review provides an end‐to‐end roadmap covering sequencing platforms, library preparation strategies ...
Chuwen Xu, Jia Li, Chenxi Yin, Keying Li, Tian Wang, Shiwen Gao, Yue Yu, Cheng Chang, Ye Wang, Guoqing Tong, Liang Gong, Wen Hu, Guoliang Chai, Yilai Han, Qian Qin, Suoqin Jin, Xiufen Zou, Bo Li, Tianyuan Zhang, Ana Conesa, Yunhao Wang, Dingjie Wang   +21 more
wiley   +1 more source

Case Report: Neo-homozygous nonsense mutation in NLRP5 associated with early embryonic arrest in two sisters from a Chinese family. [PDF]

Front Reprod Health
Xu Q, Deng Y, Huo J, Yan Y, Zhang Y, Ma Y, Zhuan L.   +6 more
europepmc   +1 more source