Results 81 to 90 of about 137,449 (345)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Effects of outbreeding depression on meristics and bilateral asymmetry in hybrids of spatially separated populations of pink salmon (Oncorhynchus gorbuscha) [PDF]

, 2005
Thesis (M.S.) University of Alaska Fairbanks, 2005Different populations of a species distributed over diverse conditions adapt to their local environments to improve their ability to survive or reproduce. Intraspecific hybridization can alter the locally
Hoover, Carrie L.
core  

Mixture or mosaic? Genetic patterns in UK grey squirrels support a human-mediated ‘long-jump’ invasion mechanism [PDF]

, 2016
Aim Clarifying whether multiple introductions of a species remain relatively isolated or merge and interbreed is essential for understanding the dynamics of invasion processes.
Carbone, C, Lurz, P, Reuman, D, Signorile, L, Wang, J   +4 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Phenomenon of loss of heterozygosity in tumour tissue of breast cancer: association with expression of monoresistance genes

Бюллетень сибирской медицины, 2018
Purpose of work. To perform a genome-wide association study of loss of heterozygosity (LOH) with monoresistance genes expression during neoadjuvant chemotherapy (NAC) in breast cancer.Materials and methods.
M. M. Tsyganov, I. V. Deryusheva, E. Yu. Garbukov, M. K. Ibragimova, P. V. Kazantseva, V. A. Bychkov, E. M. Slonimskaya, N. V. Litviakov   +7 more
doaj   +1 more source

Rucaparib maintenance treatment for recurrent ovarian carcinoma after response to platinum therapy (ARIEL3): a randomised, double-blind, placebo-controlled, phase 3 trial [PDF]

, 2017
Background: Rucaparib, a poly(ADP-ribose) polymerase inhibitor, has anticancer activity in recurrent ovarian carcinoma harbouring a BRCA mutation or high percentage of genome-wide loss of heterozygosity.
Aghajanian, C, Aghajanian, Carol, Amit, A, Armstrong, D K, Armstrong, Deborah K, Banerjee, S N, Birrer, M J, Bologna, A, Buck, M, Buss, M K, Cameron, Terri, Chambers, S K, Chen, L-m, Clamp, A, Clamp, Andrew, Coleman, R L, Coleman, Robert L, Colombo, N, Colombo, Nicoletta, Dean, A, Dean, Andrew, Denys, H, Dirix, L, Drew, Y, El-Balat, A, Elit, L, Floquet, A, Floquet, Anne, Fong, P C, Fong, Peter C, Friedlander, M L, Gabra, H G, Gancedo, M Amenedo, Gancedo, Margarita Amenedo, Garcia-Donas, J, Garcia-Donas, Jesus, Ghatage, P, Giordano, Heidi, Gladieff, L, Goble, Sandra, Goh, J C, Goh, Jeffrey C, Grace, Caroline, Guerra, E M, Harding, Thomas C, Harnett, P, Herraez, A Casado, Holloway, R W, Holloway, Robert W, Hänle, C, Isaacson, Jeff, Jackson, D, Joly, F, Kichenadasse, G, Konecny, G E, Konecny, Gottfried E, Kovel, S, Krabisch, P, Leary, A, Leary, Alexandra, Ledermann, J A, Ledermann, Jonathan A, Leviov, M, Lin, Kevin K, Lortholary, A, Lorusso, D, Lorusso, Domenica, Lotz, J, Ma, L, Maloney, Lara, McNeish, I A, McNeish, Iain A, Medioni, J, Morgan, M A, Morris, R T, Mutch, D G, Neunhöffer, T, O'Donnell, A, O'Malley, D M, O'Malley, David M, Oaknin, A, Oaknin, Ana, Oza, A M, Oza, Amit M, Palacio, I, Parkinson, C, Pignata, S, Plante, M, Powell, M, Provencher, D, Pölcher, M, Raponi, Mitch, Romero, I, Sabbatini, R F, Safra, T, Sanchez, A, Scambia, G, Scambia, Giovanni, Scott, C L, Scott, Clare L, Shapira-Frommer, R, Slomovitz, B M, Stemmer, S, Sun, James, Swisher, E M, Swisher, Elizabeth M, Tamberi, S, Tredan, O, Vanderkwaak, T, Vergote, I, Vulfovich, M, Weberpals, J I, Weberpals, Johanne I, Welch, S, Wimberger, P, You, B, Zamagni, C   +116 more
core   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Quantitative Expression of TEL in Childhood Acute Lymphoblastic Leukemia

The International Journal of Biological Markers, 2004
Loss of heterozygosity of chromosome 12p in human precursor B-cell ALL invariably results in loss of TEL coding sequences. Accompanied by a 12;21 translocation, such loss of heterozygosity ensures complete loss of the wild-type TEL.
G. Timson, M.I. Gutiérrez, K. Bhatia
doaj   +1 more source

Dual MGMT inactivation by promoter hypermethylation and loss of the long arm of chromosome 10 in glioblastoma

Cancer Medicine, 2020
Background Epigenetic inactivation of O6‐methylguanine‐methyltransferase (MGMT) gene by methylation of its promoter is predictive of Temozolomid (TMZ) response in glioblastoma (GBM).
Sophie Richard, Gaëlle Tachon, Serge Milin, Michel Wager, Lucie Karayan‐Tapon   +4 more
doaj   +1 more source

Characterization of mutations and loss of heterozygosity of p53 and K-\u3ci\u3eras\u3c/i\u3e2 in pancreatic cancer cell lines by immobilized polymerase chain reaction [PDF]

, 2003
Background The identification of known mutations in a cell population is important for clinical applications and basic cancer research. In this work an immobilized form of the polymerase chain reaction, referred to as polony technology, was used to ...
Butz, James, Edwards, Jeremy, Wickstrom, Eric   +2 more
core   +1 more source