Results 181 to 190 of about 132,731 (277)

Mutation screening of the KCNN3 gene reveals a rare frameshift mutation [PDF]

Molecular Psychiatry, 2001
Bowen, Timothy, Williams, Nigel Melville, Norton, Nadine, Spurlock, G., Wittekindt, O. H., Morris-Rosendahl, D. J., Williams, Hywel John, Brzustowicz, L., Hoogendoorn, Bastiaan, Zammit, Stanley, Jones, G, Sanders, Rebecca, Jones, L. A., McCarthy, G., Jones, S., Bassett, A., Cardno, A. G., Owen, Michael John, O'Donovan, Michael Conlon   +18 more
openaire   +3 more sources

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

The Journal of Pathology, EarlyView.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi, Yu Huang, Xiaohuan Su, Lisheng Yu, Yixin Zhao, Jing Cheng   +5 more
wiley   +1 more source

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency. [PDF]

Front Immunol
Belaid B, Chan KW, Lamara Mahammed L, Leung D, Makhloufi S, Bendaoud F, Sakhri H, Berkani LM, Allam I, Merah F, Baaziz H, Lo B, Rosa Duque JS, Lau YL, Djidjik R.   +14 more
europepmc   +1 more source

Role of Hearing Loss Genes in the Sensory Epithelia Associated With Meniere Disease

Sensory Neuroscience, EarlyView.
ABSTRACT Meniere disease (MD) is an inner ear disorder characterized by episodic vertigo, tinnitus, fluctuating sensorineural hearing loss (SNHL), and aural fullness. Its hallmark pathological feature is endolymphatic hydrops. MD shows significant familial clustering in European and East Asian populations, supporting a strong genetic component in ...
Jose A. Lopez‐Escamez, Qiuyue Mao, Patricia Perez‐Carpena   +2 more
wiley   +1 more source

Inherited prion disease caused by a novel frameshift mutation of <i>PRNP</i> resulting in protein truncation at codon 157. [PDF]

J Alzheimers Dis
Holm-Mercer L, Mok TH, Sequeira D, Coysh T, Rudge P, Ramadan H, Darwent L, Campbell T, Murphy T, Smith C, Ritchie D, Brandner S, Jaunmuktane Z, Collinge J, Mead S.   +14 more
europepmc   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family. [PDF]

Front Genet, 2023
Jin C, Zhang X, Lei Q, Chen P, Hu H, Shen S, Liu J, Ye S.   +7 more
europepmc   +1 more source

CRISPR/Cas9 Genome Engineering in Non‐Conventional Oleaginous Yeasts: Applications, Challenges, and Prospects

Yeast, EarlyView.
ABSTRACT Given the biotechnological potential of yeast‐derived oils for oleochemical production, genes encoding lipid metabolism enzymes are key targets for metabolic engineering. Genetic engineering tools such as Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9, Transcription Activator‐Like Effector Nucleases (TALENs), Zinc ...
Rodrigo Gonçalves Dias, Fernanda Pinheiro Moreira Freitas, Eduardo Luís Menezes de Almeida, Luciano Gomes Fietto, Agustin Zsögön, Wendel Batista da Silveira   +5 more
wiley   +1 more source

Genetic influence of a STAU2 frameshift mutation and RELN regulatory elements on performance in Icelandic horses. [PDF]

Sci Rep
Sigurðardóttir H, Eriksson S, Niazi A, Rhodin M, Albertsdóttir E, Kristjansson T, Lindgren G.   +6 more
europepmc   +1 more source

Multilocus sequence typing of the invasive pest Halyomorpha halys (Hemiptera: Pentatomidae) and associated endosymbiont reveals unexplored diversity

Insect Science, EarlyView.
A multilocus sequence typing approach is proposed to explore Halymorpha halys genetic diversity, taking into consideration both insect nuclear markers and markers from the gut symbiont “Candidatus Pantoa carbekii.” Increased information was revealed regarding the number of distinct holobiont haplotypes in native and invasive populations of the pest ...
Matteo Dho, Matteo Montagna, Chenxi Liu, Giulia Magoga, Giobbe Forni, Alberto Alma, Elena Gonella   +6 more
wiley   +1 more source

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome. [PDF]

Nat Commun
Jeon S, Park J, Moon JH, Shin D, Li L, O'Shea H, Hwang SU, Lee HJ, Brimble E, Lee JW, Clark SD, Lee SK.   +11 more
europepmc   +1 more source