Results 81 to 90 of about 1,404,124 (275)

An Engineered Nonsense \u3cem\u3eURA3\u3c/em\u3e Allele Provides a Versatile System to Detect the Presence, Absence and Appearance of the [em\u3ePSI\u3c/em\u3e\u3csup\u3e+\u3c/sup\u3e] Prion in \u3cem\u3eSaccharomyces cerevisiae\u3c/em\u3e [PDF]

, 2006
Common methods to identify yeast cells containing the prion form of the Sup35 translation termination factor, [PSI+], involve a nonsense suppressor phenotype. Decreased function of Sup35p in [PSI+] cells leads to readthrough of certain nonsense mutations
Kirkland, Kathryn T., Liebman, Susan W., Manogaran, Anita L.   +2 more
core   +1 more source

Systematic associations between germ-line mutations and human cancers [PDF]

, 2016
YesThe revolution in Big Data has opened the gate for new research challenges in biomedical science. The aim of this study was to investigate whether germ-line gene mutations are a significant factor in 29 major primary human cancers. Using data obtained
Al-Shammari, Mohamad H., Peng, Yonghong, Tobin, Desmond J.   +2 more
core   +1 more source

Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report

BMC Pediatrics, 2023
Background Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa ...
Hua-yong Zhang, Min Xiao, Yong Zhang
doaj   +1 more source

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]

, 2014
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert, Campens, Laurence, Casteleyn, Christophe, Cornillie, Pieter, Coucke, Paul, De Backer, Julie, De Paepe, Anne, De Vos, Filip, Deleye, Steven, Dietz, Harry, Essers, Jeroen, Loeys, Bart, Renard, Marjolijn, Segers, Patrick, Staelens, Steven, Trachet, Bram, van Heijningen, Paula, Vandeghinste, Bert   +17 more
core   +4 more sources

A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle

BMC Genomics, 2014
BackgroundBovine hereditary zinc deficiency (BHZD) is an autosomal recessive disorder of cattle, first described in Holstein-Friesian animals. Affected calves suffer from severe skin lesions and show a poor general health status.
Simone Jung, H. Pausch, M. Langenmayer, H. Schwarzenbacher, M. Majzoub-Altweck, N. Gollnick, R. Fries   +6 more
semanticscholar   +1 more source

A truncation mutation in the L1CAM gene in a child with hydrocephalus

AIMS Molecular Science, 2021
Hydrocephalus is a neurodevelopmental, X-linked recessive disorder caused by mutations in the L1CAM gene. The L1CAM gene encodes for L1CAM protein which is essential for the nervous system development including adhesion between neurons, Myelination ...
Madhan Srinivasamurthy, Nagaraj Kakanahalli , Shreeshail V. Benakanal   +2 more
doaj   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

The role of the A C395 IFNGR1 mutation in determining susceptibility to intracellular infection in Malta [PDF]

, 2012
Background: The first human mycobacterial susceptibility gene was identified amongst four children on the island of Malta in 1995. All affected children were homozygous for a nonsense mutation at position 395 of the interferon gamma receptor 1 (IFNGR1 ...
Anderson, Suzanne T., Attard Montalto, Simon, Felice, Alex, Hibberd, Martin, Levin, Mike, Mangion, Mariella, Newport, Melanie J.   +6 more
core  

A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease [PDF]

, 2015
Missense/nonsense mutations and micro-deletions/micro-insertions of
Aguilera, Bacolla, Bacolla, Bacolla, Bacolla, Bacolla, Ball, Belotserkovskii, Bharti, Biffi, Bochman, Boyer, Brooks, Bzymek, Cebrián, Chen, Chen, Chuzhanova, Clark, Cooper, Cooper, Cooper, De, Ding, Dong, Du, Fleming, Greenblatt, Guo, Gusev, Iyer, Jain, Jain, Javadekar, Jeitany, Kaushik Tiwari, Kondrashov, Kouzine, Kregten, Kunkel, Kunkel, Kunkel, Lam, Lee, Levinson, León-Ortiz, Lopes, Lovett, Lu, Majumdar, Margolin, Morikawa, Mort, Mukherjee, Mukherjee, Murat, Nambiar, Patel, Raghavan, Reeves, Rosche, Rouleau, Sanders, Schofield, Sen, Sharma, Sinden, Sinden, Spurlock, Stenson, Stenson, Tappino, Vasquez, Verdin, Wang, Wells, Wickramasinghe, Williams, Wu, Wu, Wu, Wu, Yang, You, Zhao, Zhao, Zhou   +86 more
core   +1 more source

A nonsensePAX6mutation in a family with congenital aniridia [PDF]

Korean Journal of Pediatrics, 2016
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development.
Hae Il Cheong, Il Soo Ha, Hee Gyung Kang, Kyoung Hee Han, Hye Jin Lee   +4 more
openaire   +3 more sources