Results 91 to 100 of about 132,731 (277)

Engineering Compact Base Editors by AlphaFold‐Guided Mutation Scan and Escherichia coli‐Based Tri‐Selection

Advanced Science, EarlyView.
A miniaturized deaminase SsdAtox was scanned with AlphaFold to identify DNA binding pocket hot spots. Site‐saturation mutagenesis at gatekeeper residue K31 yielded ten‐fold activity enhancement. Trinity Screen, an E. coli‐based three‐in‐one platform selecting for high activity and reduced double‐strand breaks, enabled combinatorial evolution at DNA ...
Ryeo Gang Son, Goeun Kim, Jungjoon K. Lee   +2 more
wiley   +1 more source

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

Orphanet Journal of Rare Diseases, 2011
Background Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost ...
Eiklid Kristin L, Fuglsang Kathrine, Duno Morten, Roende Gitte, Ravn Kirstine, Tümer Zeynep, Nielsen Jytte B, Skjeldal Ola H   +7 more
doaj   +1 more source

Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family

Molecular Genetics & Genomic Medicine, 2020
Objective This study aimed to identify the disease‐causing mutation of congenital cataract disease in a large northeastern Chinese family. Materials and Methods The subjects’ peripheral blood was collected, their genomic DNA was extracted, mutation ...
Meina Lin, Ying Jin, Xinren Chen, Yu Sui, Yan Li, Huan Li, Xiang Ni, Ning Zhao, Yongping Lu, Miao Jiang   +9 more
doaj   +1 more source

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Anke Hinney, Anne-Kathrin Wermter, Britta Brokamp, Brocke, Claudia Hess, Cody, Constanze Vogel, Dubern, Farooqi, Frank Geller, Gotoda, Gu, Hanspeter Goldschmidt, Hebebrand, Hebebrand, Helmut Remschmidt, Helmut Schäfer, Hinney, Hirschhorn, Ho, Jacobson, Johannes Hebebrand, Katzmarzyk, Kobayashi, Lubrano-Berthelier, Mergen, Milligan, Milligan, Miraglia Del Giudice, Neel, Ohshiro, Salomon, Sarah Hohmann, Sina, Spielman, Stunkard, Thomas Gudermann, Vaisse, Vaisse, Wolfgang Siegfried, Yeo   +40 more
core   +1 more source

Chain termination codons and polymerase‐induced frameshift mutations

FEBS Letters, 1997
The consensus sequence for single‐base deletions in non‐reiterated runs during in vitro DNA‐dependent DNA polymerisation is refined using data available in the literature. This leads to the observation that chain termination codons are hotspots for single‐base deletions.
Jestin, Jean-Luc, Kempf, Achim
openaire   +2 more sources

A Testis‐Specific Aralkylamine N‐Acetyltransferase Regulates Dimorphic Sperm Function and Male Fertility in Moths

Advanced Science, EarlyView.
We identify a Lepidoptera‐conserved testis‐specific arylalkylamine N‐acetyltransferase (LTNAT) that governs male moth fertility via a novel mechanism. LTNAT loss disrupts eupyrene sperm mitochondrial derivatives and impairs apyrene sperm motility, offering a safe molecular target for innovative pesticides and genetic pest control.
Hao Sun, Peng‐Yi Huang, Zhi‐Ruo Zhang, Cong‐Fen Gao, Subba Reddy Palli, Shun‐Fan Wu   +5 more
wiley   +1 more source

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

Structure‐Guided Engineering of a Cas12i Nuclease Unlocks Near‐PAMless Genome Editing

Advanced Science, EarlyView.
CRISPR‐Cas nucleases are limited by PAM requirements, restricting genome accessibility. Structure‐guided engineering of the compact Cas12i nuclease SF01 produced three variants with near‐PAMless, enabling efficient editing at diverse 5'‐NNTN‐3' sites. These nucleases expand the editable portion of the human genome more than fourfold, enabling efficient
Qitong Chen, Hanlin Gou, Chao Xu, Sihan Wang, Huitao Zhang, Minglei Song, Mengge Wang, Xingkun Ji, Xiaofei Wei, Yuanyan Tan, Hehua Quan, Pengyu Luo, Hanyu Shou, Pengpeng Liu, Yafeng Liang, Jian‐Kang Zhu   +15 more
wiley   +1 more source

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

BMC Medical Genetics, 2017
Background Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe.
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh   +6 more
doaj   +1 more source

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer [PDF]

, 2002
BACKGROUND: Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified
Dalton, Ann, Harirchi, Iraj, Hornby, David P., Jarvandi, Soghra, Mohagheghi, Mohammad A., Yassaee, Vahid R., Zeinali, Sirous   +6 more
core   +2 more sources