Kelch proteins: emerging roles in skeletal muscle development and diseases.
Gupta, Vandana, and Alan Beggs. 2014. “Kelch Proteins: Emerging Roles in Skeletal Muscle Development and Diseases.”. Skelet Muscle 4: 11.
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Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila, Minttu, Vilma-Lotta Lehtokari, Steven Marston, Tuula Nyman, Christine Barnerias, Alan Beggs, Enrico Bertini, et al. 2014. “Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.”. Hum Mutat 35 (7): 779-90.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Gupta, Vandana, Gianina Ravenscroft, Ranad Shaheen, Emily Todd, Lindsay Swanson, Masaaki Shiina, Kazuhiro Ogata, et al. 2013. “Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination As an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.”. Am J Hum Genet 93 (6): 1108-17.
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Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda, Hanna, Milena Preti, Mee Rie Sheen, Marie-Françoise O’Donohue, Adrianna Vlachos, Stella Davies, Antonis Kattamis, et al. 2012. “Frameshift Mutation in P53 Regulator RPL26 Is Associated With Multiple Physical Abnormalities and a Specific Pre-Ribosomal RNA Processing Defect in Diamond-Blackfan Anemia.”. Hum Mutat 33 (7): 1037-44.
Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.
Payne, Elspeth, Niccolò Bolli, Jennifer Rhodes, Omar Abdel-Wahab, Ross Levine, Cyrus Hedvat, Richard Stone, et al. 2011. “Ddx18 Is Essential for Cell-Cycle Progression in Zebrafish Hematopoietic Cells and Is Mutated in Human AML.”. Blood 118 (4): 903-15.
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria, Ilenia, Emanuela Garelli, Hanna Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, et al. 2010. “The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update.”. Hum Mutat 31 (12): 1269-79.
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Bennett, Richard, Hal Schneider, Elicia Estrella, Stephanie Burgess, Andrew Cheng, Caitlin Barrett, Va Lip, et al. 2009. “Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes.”. BMC Genet 10: 66.
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing, Nigel, Danielle Dye, Carina Wallgren-Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, et al. 2009. “Mutations and Polymorphisms of the Skeletal Muscle Alpha-Actin Gene (ACTA1).”. Hum Mutat 30 (9): 1267-77.
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda, Hanna, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O’Donohue, Hal Schneider, Natasha Darras, et al. 2008. “Ribosomal Protein L5 and L11 Mutations Are Associated With Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients.”. Am J Hum Genet 83 (6): 769-80.