Results 101 to 110 of about 114,676 (292)

Relative contributions of germline gene variation and somatic mutation to immunoglobulin diversity in the mouse. [PDF]

, 1986
Takashi Gojobori, M Nei
openalex   +1 more source

Generating golden Syrian hamsters with conditional alleles via zygote microinjection of CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
We established the first conditional knockout (cKO) model in the golden Syrian hamster by CRISPR/Cas9‐mediated genome editing. Cas9 protein, two sgRNAs, and a donor plasmid carrying loxP‐flanked exon 2 of the ApoF gene were microinjected into one‐cell embryos. The floxed allele was efficiently generated (up to 27%) and transmitted through the germline.
Wei Chen, Xu Zhang, Rui Fan, Xia Li, Feifei Guan, Gefan Wan, Weining Kong, Xiaolong Qi, Shuo Pan, Sijing Shi, Yuanlong Su, Shan Gao, Wei Huang, Xunde Xian, Jiangning Liu, Yuhui Wang, Yuanwu Ma   +16 more
wiley   +1 more source

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

PLoS ONE
Genetic analyses were conducted on tumor samples from 88 patients with uveal melanoma (UM), 6 of whom carry pathogenic germline variants in BAP1. We assessed the frequency, pattern, and prognostic significance of somatic aberrations, and investigated ...
Karin A W Wadt, Katja Harbst, Mette M B Sjøl, Frida Rosengren, Christina Westmose Yde, Kristoffer Staal Rohrberg, Marlene Richter Jensen, Steffen Heegaard, Jens Folke Kiilgaard, Anne-Marie Gerdes, Nicholas Hayward, Göran B Jönsson   +11 more
doaj   +1 more source

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency [PDF]

, 2013
Karin Chen, Emily Coonrod, Attila Kumánovics, Zechariah F. Franks, Jacob Durtschi, Rebecca L. Margraf, Wilfred Wu, Nahla Heikal, Nancy H. Augustine, Perry G. Ridge, Harry R. Hill, Lynn B. Jorde, Andrew S. Weyrich, Guy A. Zimmerman, Adi V. Gundlapalli, John F. Bohnsack, Karl V. Voelkerding   +16 more
openalex   +1 more source

PP121 Comparison of genomic and transcriptional homologous recombination deficiency assays in breast cancer patients with germline BRCA mutations

, 2022
H. Chae, S.H. Sim, Jae‐Hong Kim, W-J. Song, Y.J. Park, E-G. Lee, J.H. Han, S-Y. Jung, S. Lee, E.S. Lee, Yong‐Soon Kwon, K.S. Lee, S-Y. Kong   +12 more
openalex   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

Annals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar1, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +7 more
wiley   +1 more source

Role for Germline Mutations and a Rare Coding Single Nucleotide Polymorphism Within the KCNJ5 Potassium Channel in a Large Cohort of Sporadic Cases of Primary Aldosteronism [PDF]

, 2014
Meena Murthy, Shengxin Xu, Gianmichele Massimo, Martin Wolley, Richard D. Gordon, Michael Stowasser, Kevin M. O’Shaughnessy   +6 more
openalex   +1 more source

Data from Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic Paragangliomas

, 2023
Alexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, Florence Habarou, Charlotte Lussey‐Lepoutre, Éric Letouzé, Hervé Lefèbvre, Isabelle Guilhem, Magalie Haissaguerre, I. Raingeard, Mathilde Padilla-Girola, Thi Ngoc Anh Tran, Lucien Tchara, Jérôme Bertherat, Laurence Amar, Chris Ottolenghi, Nelly Burnichon, Anne‐Paule Gimenez‐Roqueplo, Judith Favier   +18 more
openalex   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations

Journal of Translational Medicine
Background Germline mutations in cancer-predisposition genes are critical for clinical risk assessment and therapeutic decisions in breast cancer, yet large-scale genomic studies and population-specific tools remain limited for Asian populations. Methods
Jinbo Wu, Yaqian Xu, Fei Xie, Liu Yang, Huan Li, Miao Liu, Houpu Yang, Chaobin Wang, Yuan Peng, Yang Yang, Wei Du, Shu Wang   +11 more
doaj   +1 more source