Results 31 to 40 of about 61,070 (218)

T-SP1: a novel serine protease-like protein predominantly expressed in testis [PDF]

, 2008
Here, we describe a novel member in the group of membrane-anchored chymotrypsin (S1)-like serine proteases, namely testis serine protease 1 (T-SP1), as it is principally expressed in testis tissue.
Geissler, Claudia, Jochum, Marianne, Naegler, Dorit K., Nerlich, Andreas, Neth, Peter, Profanter, Birgit, Sommerhoff, Christian P.   +6 more
core   +1 more source

The astacin metalloprotease moulting enzyme NAS-36 is required for normal cuticle ecdysis in free-living and parasitic nematodes [PDF]

, 2011
Nematodes represent one of the most abundant and species-rich groups of animals on the planet, with parasitic species causing chronic, debilitating infections in both livestock and humans worldwide. The prevalence and success of the nematodes is a direct
ANDREW J. BIRNIE, ANTONY P. PAGE, GILLIAN McCORMACK, GILLIAN STEPEK, Hishida, Page   +5 more
core   +1 more source

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders [PDF]

, 2004
Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births.
A Lernmark, Alex F Markham, B Hagberg, BG Condie, C Geoffrey Woods, CL Fawer, Clare N Lynex, CM Wiles, David T Bonthon, DF Bu, DF Bu, DJ Stone, DL Martin, DL Martin, DP McHale, DP McHale, E Maestrini, Eamonn R Maher, F Sandbrink, G Gaffney, GE Homanics, H Asada, H Mitoma, HM Meinck, I Hughes, Ian M Carr, J Kim, J Volpe, Jack P Leek, JO Forfar, JS Lappalainen, K Burk, K Dinkel, KCK Kuban, KH Gustavson, LM Dubowitz, LM Levy, M Baraitser, M Solimena, M Solimena, MC Dalakas, MG Erlander, MH Butler, N Laprade, N Paneth, POD Pharoah, PS Eicher, PT Bosma, Rajgopal Achuthan, RW Bond, S Bundey, S Chattopadhyay, S Kono, S Kure, S Mitchell, SD Chessler, Simon Mitchell, V Cormier-Daire   +57 more
core   +2 more sources

Localized inhibition of protein phosphatase 1 by NUAK1 promotes spliceosome activity and reveals a MYC-sensitive feedback control of transcription. [PDF]

, 2020
Deregulated expression of MYC induces a dependence on the NUAK1 kinase, but the molecular mechanisms underlying this dependence have not been fully clarified.
Ade, C.P., Baluapuri, A., Chang, Y.C., Cossa, G., Eilers, M., Girard, C., Kempa, S., Kumar, A., Kuster, B., Lührmann, R., Mastrobuoni, G., Mumberg, D., Prinz, F., Roeschert, I., Schülein-Völk, C., Silveira Vidal, R., Walz, S., Wolf, E., Wortmann, L.   +18 more
core   +1 more source

EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types [PDF]

, 2017
The enhancer of zeste homolog 2 (EZH2) gene encodes a histone methyltransferase that is a catalytic subunit of the Polycomb repressive complex 2 (PRC2) group of proteins that act to repress gene expression.
Crea, Francesco, Fornaro, Lorenzo, Landi, Stefano, Paolicchi, Elisa, Rigas, Sushilaben   +4 more
core   +2 more sources

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source

Mechanically probing the folding pathway of single RNA molecules [PDF]

, 2003
We study theoretically the denaturation of single RNA molecules by mechanical stretching, focusing on signatures of the (un)folding pathway in molecular fluctuations.
Banerjee, Bockelmann, Bustamante, Cech, Fernandez, Gerland, Heymann, Isambert, Jaeger, Liphardt, Liphardt, Maier, McCaskill, Montanari, Pan, Ralf Bundschuh, Rief, SantaLucia, Smith, Terence Hwa, Tinoco, Ulrich Gerland, Walter, Zhuang, Zhuang   +24 more
core   +6 more sources

Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types [PDF]

, 2018
Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer.
Alvaro, Domenico, Anant A, Agrawal, Bragazzi, MARIA CONSIGLIA, Cardinale, Vincenzo, Gaudio, Eugenio, James, Palacino, Lihua, Yu, Michael, Seiler, Peter G, Smith, Ping, Zhu, Shouyong, Peng, Silvia, Buonamici, Teng, Teng   +12 more
core   +1 more source

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensivity in a patient with xeroderma pigmentosum [PDF]

, 2010
Background: Radiotherapy-induced DNA double-strand breaks (DSBs) are critical cytotoxic lesions. Inherited defects in DNA DSB repair pathways lead to hypersensitivity to ionising radiation, immunodeficiency and increased cancer incidence.
Abbaszadeh, Fatemah, Arlett, Colin F., Bourton, E.C, Clingen, Peter H., Green, M H, Makarov, E.M., Newbold, R.F, Parris, C.N., Plowman, P.N, Themis, M.   +9 more
core   +1 more source

Rapid Targeted Gene Disruption in Bacillus Anthracis [PDF]

, 2013
Anthrax is a zoonotic disease recognized to affect herbivores since Biblical times and has the widest range of susceptible host species of any known pathogen.
Ellington, Andrew, Kramer, Ryan, Lambowitz, Alan M., Lamkin, Thomas J., Pemberton, Adin, Perutka, Jiri, Saldanha, Roland J., Shiflett, Patrick, Taylor, Deborah, Whitt, Jacob T.   +9 more
core   +3 more sources