Results 21 to 30 of about 14,999,742 (341)

Urinary Tract Effects of HPSE2 Mutations [PDF]

Journal of the American Society of Nephrology, 2015
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited.
Stuart H. M., Roberts N. A., Hilton E. N., McKenzie E. A., Daly S. B., Hadfield K. D., Rahal J. S., Gardiner N. J., Tanley S. W., Lewis M. A., Sites E., Angle B., Alves C., Lourenço T., Rodrigues M., Calado A., Amado M., Guerreiro N., Serras I., Beetz C., Varga R. -E., Silay M. S., Darlow J. M., Dobson M. G., Barton D. E., Hunziker M., Puri P., Feather S. A., Goodship J. A., Goodship T. H. J., Lambert H. J., Cordell H. J., Saggar A., Kinali M., Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS, Beattie J, Bradbuty M, Coad N, Coulthard M, Cuckow P, Dossetor J, Dudley J, Hughes D, Feather S, Fitzpatrick M, Goodship JA, Goodship TH, Griffin N, Gullett AM, Haycock G, Hodes D, Houtman P, Hughes A, Hulton S, Hunter E, Iqbal J, Inward C, Jackson J, Jadresic L, Jaswon M, Jones C, Jones R, Judd B, Kier M, Kilby A, Lambert H, Lewis M, Malcolm S, Marks S, Maxwell H, McGraw M, Milford D, Moghal N, O'Connor M, O'Donoghue DJ, Ognanovic M, Plant N, Postlethwaite R, Rees L, Reid C, Rfidah E, Rigdon S, Sandford R, Savage M, Scanlan J, Sinha S, Stephens S, Stewart A, Storr J, Taheri S, Taylor CM, Tizard J, Trompeter R, Tullus K, Verber I, Van't Hoff W, Vernon S, Verrier-Jones K, Watson A, Webb N, Wilcox D, Woolf AS, Aksu N, Alpay H, Anarat A, Arbeiter K, Ardissino GL, Balat A, Baskin E, Bayazit A, Büscher R, Cakar N, Caldas Afonso A, Caliskan S, Candan C, Canpolat N, Donmez O, Doyon A, Drozdz D, Dusek J, Duzova A, Emre S, Erdogan H, Feldkötter M, Fischbach M, Galiano G, Haffner D, Harambat J, Jankauskiene A, Jeck N, John U, Jungraithmair T, Kemper M, Kiyak A, Kracht D, Kranz B, Laube G, Litwin M, Matteucci CM, Montini G, Melk A, Mir S, Niemirska A, Peco-Antic A, Ozcelik G, Pelan E, Picca S, Pohl M, Querfeld U, Ranchin B, Schaefer F, Shroff R, Simonetti G, Sözeri B, Soylemezoglu O, Tabel Y, Testa S, Trivelli A, Vidal E, Wigger M, Wühl E, Wygoda S, Yalcinkaya F, Yilmaz E, Zeller R, Zurowska AM.   +171 more
openaire   +9 more sources

Effect of Ataluren on dystrophin mutations [PDF]

Journal of Cellular and Molecular Medicine, 2020
AbstractDuchenne muscular dystrophy is a severe muscle wasting disease caused by mutations in the dystrophin gene (dmd). Ataluren has been approved by the European Medicines Agency for treatment of Duchenne muscular dystrophy. Ataluren has been reported to promote ribosomal read‐through of premature stop codons, leading to restoration of full‐length ...
Joachim Berger, Mei Li, Silke Berger, Michelle Meilak, Jeanette Rientjes, Peter D. Currie   +5 more
openaire   +2 more sources

popDMS infers mutation effects from deep mutational scanning data [PDF]

Bioinformatics
Deep mutational scanning (DMS) experiments provide a powerful method to measure the functional effects of genetic mutations at massive scales. However, the data generated from these experiments can be difficult to analyze, with significant variation between experimental replicates. To overcome this challenge, we developed popDMS, a computational method
Zhenchen Hong, John P. Barton
openaire   +5 more sources

Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?

Genes, 2020
The GJB2 gene is the most frequent cause of congenital or early onset hearing loss worldwide. In this study, we investigated the haplotypes of six GJB2 mutations frequently observed in Japanese hearing loss patients (i.e., c.235delC, p.V37I, p.[G45E ...
Jun Shinagawa, Hideaki Moteki, S. Nishio, Y. Noguchi, S. Usami   +4 more
semanticscholar   +1 more source

Crosstalk between PI3K/Akt and Wnt/β-catenin pathways promote colorectal cancer progression regardless of mutational status

Cancer Biology & Therapy, 2022
The PI3K/Akt and Wnt/β-catenin pathways play an important role in the acquisition of the malignant phenotype in cancer. However, there are few data regarding the role of the interplay between both pathways in colorectal cancer (CRC) progression.
Cassio Dejair Fleming-de-Moraes, M. R. Rocha, J. Tessmann, W. M. de Araújo, J. Morgado-Díaz   +4 more
semanticscholar   +1 more source

Toward Developing Intuitive Rules for Protein Variant Effect Prediction Using Deep Mutational Scanning Data

ACS Omega, 2020
Protein structure and function can be severely altered by even a single amino acid mutation. Predictions of mutational effects using extensive artificial intelligence (AI)-based models, although accurate, remain as enigmatic as the experimental ...
C. K. Sruthi, H. Balaram, M. Prakash
semanticscholar   +1 more source

Evolution, Mode of Transmission, and Mutational Landscape of Newly Emerging SARS-CoV-2 Variants

mBio, 2021
The recent emergence of multiple variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has become a significant concern for public health worldwide.
Chiranjib Chakraborty, Ashish Ranjan Sharma, Manojit Bhattacharya, Govindasamy Agoramoorthy, Sang-Soo Lee   +4 more
doaj   +1 more source

Association between mutational subgroups, Warburg‐subtypes, and survival in patients with colorectal cancer

Cancer Medicine, 2023
Background Previous research suggests that Warburg‐subtypes are related to potentially important survival differences in colorectal cancer (CRC) patients.
Kelly Offermans, Josien C. A. Jenniskens, Colinda C. J. M. Simons, Iryna Samarska, Gregorio E. Fazzi, Jaleesa R. M. van derMeer, Kim M. Smits, Leo J. Schouten, Matty P. Weijenberg, Heike I. Grabsch, Piet A. van denBrandt   +10 more
doaj   +1 more source

Deep mutational scanning of essential bacterial proteins can guide antibiotic development

bioRxiv, 2022
Deep mutational scanning can be used to investigate protein function and stability. Here, Dewachter et al. use deep mutational scanning on three essential bacterial proteins to study the mutations’ effects in their original genomic context, providing ...
Liselot Dewachter, A. Brooks, Katherine Noon, C. Cialek, Alia Clark-ElSayed, Thomas Schalck, Nandini Krishnamurthy, W. Versées, W. Vranken, J. Michiels   +9 more
semanticscholar   +1 more source

Spontaneous mutation accumulation in multiple strains of the green alga, Chlamydomonas reinhardtii [PDF]

, 2014
Estimates of mutational parameters, such as the average fitness effect of a new mutation and the rate at which new genetic variation for fitness is created by mutation, are important for the understanding of many biological processes. However, the causes
Adams, Baer, Baer, Baranyi, Barrick, Bateman, Charlesworth, Charlesworth, Crutchfield, Davies, Dickinson, Drake, Fernandez, Fisher, Fry, García-Dorado, Goffeau, Goho, Gong, Haerty, Halligan, Halligan, Hartfield, Joseph, Keightley, Keightley, Keightley, Keightley, Keightley, Keightley, Kibota, Knight, Kondrashov, Koonin, Liss, Loewe, Lukjancenko, Lynch, Lynch, Lynch, Lynch, Massey, Matic, Merchant, Mukai, Mukai, Ness, Otto, R Core Team, Schaack, Schoen, Schrider, Schultz, Sharp, Shaw, Smith, Sokal, Sousa, Sundin, Sung, The Arabadopsis, The C. elegans Sequencing Consortium, Torgerson, Winzeler, Zeyl, Zuur   +65 more
core   +1 more source