Results 111 to 120 of about 586,929 (366)

Coding exons function as tissue-specific enhancers of nearby genes

Genome Research, 2012
Enhancers are essential gene regulatory elements whose alteration can lead to morphological differences between species, developmental abnormalities, and human disease.
Ramon Y. Birnbaum, E. J. Clowney, O. Agamy, Mee J. Kim, Jingjing Zhao, Takayuki Yamanaka, Zachary Pappalardo, S. Clarke, A. Wenger, Loan Nguyen, F. Gurrieri, D. Everman, C. Schwartz, O. Birk, G. Bejerano, S. Lomvardas, N. Ahituv   +16 more
semanticscholar   +1 more source

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant [PDF]

, 2021
Tomonobu Satô, Shunichiro Takezaki, Takeru Goto, Shin‐ichi Ishikawa, Kazumi Oura, Asuka Takahata, Haruki Shiraishi, Yuji Maruo, Norio Sato, Takashi Suganuma, Makoto Mikawa   +10 more
openalex   +1 more source

Autophagosome marker, LC3, is released extracellularly via several distinct pathways

FEBS Open Bio, EarlyView.
This study establishes a novel HiBiT‐tagging system for ultrasensitive detection of LC3, revealing multiple pathways for its extracellular secretion. It demonstrates that LC3 is released via both autophagy‐dependent and ‐independent mechanisms, including a novel route for nonlipidated LC3‐I.
Koki Saito, Masashi Arakawa, Koki Maeda, Eiji Morita   +3 more
wiley   +1 more source

Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours [PDF]

, 2017
This study investigated Ki t receptor dysregulations (cytoplasmic immunohistochemical expression and/or c-KIT mutations) in cats a\ufb00ected with splenic mast cell tumours. Twenty-two cats were included.
Amagai, Arock, Carpenter, Columbo, Dank, Frost, Garner, Giantin, Hadzijusufovic, Hahn, Henry, Isotani, Isotani, Lanternier, Letard, Liska, Litster, London, London, Mallett, Marconato, Meininger, Rodriguez-Cariño, Sabattini, Sabattini, Sabattini, Spangler, Takanosu, Takeuchi, Webster, Webster, Webster, Zemke   +32 more
core   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

TMC4 localizes to multiple taste cell types in the mouse taste papillae

FEBS Open Bio, EarlyView.
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata, Yoshikazu Saito, Yoichi Kasahara, Wataru Fujii, Takumi Misaka, Tomiko Asakura, Masataka Narukawa   +6 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

TranspoGene and microTranspoGene: transposed elements influence on the transcriptome of seven vertebrates and invertebrates [PDF]

, 2008
Transposed elements (TEs) are mobile genetic sequences. During the evolution of eukaryotes TEs were inserted into active protein-coding genes, affecting gene structure, expression and splicing patterns, and protein sequences.
Asaf Levy, Biemont, Borchert, Callinan, Clark, Consortium, Dagan, Deininger, Deininger, Gasteiger, Giardine, Gil Ast, Griffiths-Jones, Han, Hedges, Houwing, Johnson, Jordan, Jurka, Karolchik, Kent, Kim, Kim, Kuhn, Lander, Lev-Maor, Lippman, Lorenc, Makalowski, Martignetti, McKusick, Morgan, Noa Sela, Pasyukova, Piriyapongsa, Pruitt, Sayah, Sela, Smalheiser, Smalheiser, Sorek, Sorek, Thornburg, Waterston   +43 more
core   +3 more sources

Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers

BMC Genetics, 2012
Background Duchenne muscular dystrophy, a fatal muscle-wasting disease, is characterized by dystrophin deficiency caused by mutations in the dystrophin gene.
Malueka Rusdy, Takaoka Yutaka, Yagi Mariko, Awano Hiroyuki, Lee Tomoko, Dwianingsih Ery, Nishida Atsushi, Takeshima Yasuhiro, Matsuo Masafumi   +8 more
doaj   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source