Results 171 to 180 of about 232,441 (272)

A novel role for the 3' region of introns in pre-mRNA splicing of Saccharomyces cerevisiae. [PDF]

, 1987
Brian C. Rymond, Dana Torrey, Michael Rosbash   +2 more
openalex   +1 more source

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database

Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022
Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +8 more
wiley   +1 more source

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Human Mutation, Volume 43, Issue 12, Page 2130-2140, December 2022., 2022
Abstract Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA‐seq) on RNA
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham   +24 more
wiley   +1 more source

Kluyveromyces lactis maintains Saccharomyces cerevisiae intron-encoded splicing signals. [PDF]

, 1989
James O. Deshler, G P Larson, J J Rossi
openalex   +1 more source

Shennong 1 Chicken 40K Liquid Chip: Advancing Genetic Research in Chinese Indigenous Chickens

Animal Research and One Health, EarlyView.
Based on comprehensive genomic data of Chinese indigenous chickens, we developed a specialized genotyping array for this population. Comparative analyses with published mainstream arrays and evaluations, including genetic assessment of diverse chicken types and gene mining analyses, demonstrated its superior applicability to Chinese indigenous chickens.
Chaoqun Gao, Chenxi Zhang, Kaiyuan Tian, Shucan Zhao, Yongle Xue, Sensen Yan, Chengpeng Xiao, Donghua Li, Guirong Sun, Ruili Han, Ruirui Jiang, Yadong Tian, Wenting Li, Kejun Wang, Xiangtao Kang   +14 more
wiley   +1 more source

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Human Mutation, Volume 43, Issue 12, Page 2234-2250, December 2022., 2022
Abstract Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression.
Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, G. Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, MD Study Group, Susanne Roosing, Frans P. M. Cremers   +15 more
wiley   +1 more source

Intrinsic <i>Alu</i> affects for RNA splicing in a minigene model. [PDF]

Biochem Biophys Rep
Nakama M, Imanaka B, Kimoto Y.
europepmc   +1 more source

Noncoding RNAs in Host–Microbiota Interaction

Animal Research and One Health, EarlyView.
The intricate interplay between gut microbiota and the host exerts a profound impact on host biological processes and disease development. This review highlights the pivotal role of noncoding RNAs (ncRNAs) in this interaction. Host ncRNAs regulate gene expression and microbiota composition, whereas microbial small RNAs (sRNAs) modulate host gene ...
Ziyi Zhao, Ni Li, Jingyi Xu, Jianrong Ren, Xiaojun Yang, Xinyi Li, Junhu Yao, Shengru Wu   +7 more
wiley   +1 more source

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human Mutation, Volume 43, Issue 12, Page 2308-2323, December 2022., 2022
Abstract Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via disruption/creation of splicing motifs such as 5′/3′ splice sites, branch sites, or splicing regulatory elements.
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger   +35 more
wiley   +1 more source

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source