Results 51 to 60 of about 736,700 (337)

Sporadic white sponge nevus caused by a mutation in the keratin 4 gene

Oral and Maxillofacial Surgery Cases, 2020
Herein, we present a sporadic case of white sponge nevus (WSN) on the cheek mucosa in a 27-year-old Japanese man. A definite diagnosis of WSN was obtained using the typical clinical appearance and microscopic features of the lesions.
Harusachi Kanazawa, Akihiro Kita, Nao Ishida, Isao Miyamoto, Atsusi Kasamatsu, Katsuhiro Uzawa   +5 more
doaj   +1 more source

Presence of the ABCB1 (MDR1) deletion mutation causing ivermectin hypersensitivity in certain dog breeds in Belgium [PDF]

, 2009
Hypersensitivity to ivermectin and certain other drugs in Collies and related breeds is caused by a 4-base pair deletion mutation in the ABCB1 gene, better known as the MDR1 gene, encoding P-glycoprotein.
Daminet, Sylvie, Erkens, Tim, Gommeren, Kris, Lampo, Evelyne, Peelman, Luc, Rogiers, Carolien, Van den Broeke, Alice, Van Poucke, Mario, Van Zeveren, Alex, Vander Donckt, Dominique   +9 more
core   +2 more sources

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]

, 2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

Brazilian Journal of Medical and Biological Research, 2013
Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF.
C. Kosan, A. Cayir, M.I. Turan
doaj   +1 more source

A common phytoene synthase mutation underlies white petal varieties of the California poppy. [PDF]

, 2019
The California poppy (Eschscholzia californica) is renowned for its brilliant golden-orange flowers, though white petal variants have been described.
Gong, Xue, Pollack, Andrew J, Pollack, Jonathan R   +2 more
core   +1 more source

Identification of the catalytic motif of the microbial ribosome inactivating cytotoxin colicin E3 [PDF]

, 2004
Colicin E3 is a cytotoxic ribonuclease that specifically cleaves 16S rRNA at the ribosomal A-site to abolish protein synthesis in sensitive Escherichia coli cells.
Bohm, Boon, Bowman, Carr, Cuchillo, Garinot-Schneider, Irie, Kerr, Kleanthous, Kleanthous, Makarov, Mosbahi, Ogawa, Ohno, Ohno, Ohno-Iwashita, Parret, Pommer, Rojas, Scholz, Schultz, Sidikaro, Smarda, Soelaiman, Steege, Tomita, Walker, Walker, Walker, Walker, Wallis   +30 more
core   +2 more sources

The role and implications of mammalian cellular circadian entrainment

FEBS Letters, EarlyView.
At their most fundamental level, mammalian circadian rhythms occur inside every individual cell. To tell the correct time, cells must align (or ‘entrain’) their circadian rhythm to the external environment. In this review, we highlight how cells entrain to the major circadian cues of light, feeding and temperature, and the implications this has for our
Priya Crosby
wiley   +1 more source

Heterozygous frameshift mutation in FaMYB10 is responsible for the natural formation of red and white-fleshed strawberry (Fragaria x ananassa Duch)

Frontiers in Plant Science, 2022
During natural evolution and artificial selection, the fruit color of many species has been repeatedly gained or lost and is generally associated with mutations in genes encoding R2R3-MYB transcription factors, especially MYB10.
Huazhao Yuan, Weijian Cai, Xiaodong Chen, Fuhua Pang, Jing Wang, Mizhen Zhao   +5 more
doaj   +1 more source

Correction: Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses

PLOS Genetics, 2019
[This corrects the article DOI: 10.1371/journal.pgen.1002653.].
Hauswirth, Regula, Haase, Bianca, Blatter, Marlis, Brooks, Samantha A, Burger, Dominik Cyrill, Drögemüller, Cord, Gerber, Vinzenz, Henke, Diana, Janda, Jozef, Jude, Rony, Magdesian, K Gary, Matthews, Jacqueline M, Poncet, Pierre-André, Svansson, Vilhjálmur, Tozaki, Teruaki, Wilkinson-White, Lorna, Penedo, M Cecilia T, Rieder, Stefan, Leeb, Tosso   +18 more
openaire   +3 more sources