Results 201 to 210 of about 304,895 (349)

Mutation update for the ACTN2 gene

open access: yesHuman Mutation, Volume 43, Issue 12, Page 1745-1756, December 2022., 2022
Abstract ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal titins, and thus contributes to sarcomere stability.
Johanna Ranta‐aho   +13 more
wiley   +1 more source

Spider Eye Development Editing and Silk Fiber Engineering Using CRISPR‐Cas

open access: yesAngewandte Chemie International Edition, Accepted Article.
CRISPR‐Cas9 gene editing represents an effective and precise technology to induce mutations in the genome, and it has been applied to a wide range of organisms for diverse purposes. However, CRISPR‐based gene editing in spiders has not been reported to date.
Edgardo Santiago Rivera, Thomas Scheibel
wiley   +1 more source

Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis

open access: yesHuman Mutation, Volume 43, Issue 12, Page 2091-2101, December 2022., 2022
Abstract The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly appreciated. Monogenic disorders associated with IPF affect two pathways: telomere maintenance, accounting for approximately 10% of all patients with IPF, and surfactant biology, responsible for 1%–3% of cases and often co‐occurring with lung ...
Rachel M. Sutton   +10 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

open access: yesHuman 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   +6 more
wiley   +1 more source

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

open access: yesAnimal 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   +14 more
wiley   +1 more source

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