Results 61 to 70 of about 1,703,111 (346)

Germline and Somatic DNA Damage Repair Gene Mutations and Overall Survival in Metastatic Pancreatic Adenocarcinoma Patients Treated with FOLFIRINOX [PDF]

, 2018
Purpose: Pancreatic ductal adenocarcinoma (PDAC) is a lethal cancer with lack of predictive biomarkers. We conducted a study to assess DNA damage repair (DDR) gene mutations as a predictive biomarker in PDAC patients treated with FOLFIRINOX ...
Gbolahan, Olumide, Hancock, Brad A., O'Neil, Bert H., Radovich, Milan, Sehdev, Amikar, Shahda, Safi, Stanley, Melissa, Wan, Jun, Wu, Howard H.   +8 more
core   +1 more source

Novel missense MTTP gene mutations causing abetalipoproteinemia [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2014
The microsomal triglyceride transfer protein (MTTP) plays a critical role in the formation of hepatic very low density lipoprotein. Abetalipoproteinemia (ABL) is a rare, naturally occurring extreme form of MTTP inhibition, which is characterized by the virtual absence of apolipoprotein (apo) B-containing lipoproteins in blood.
Sharon A, Miller, John R, Burnett, Mike A, Leonis, C James, McKnight, Frank M, van Bockxmeer, Amanda J, Hooper   +5 more
openaire   +2 more sources

A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease [PDF]

, 2015
Missense/nonsense mutations and micro-deletions/micro-insertions of
Aguilera, Bacolla, Bacolla, Bacolla, Bacolla, Bacolla, Ball, Belotserkovskii, Bharti, Biffi, Bochman, Boyer, Brooks, Bzymek, Cebrián, Chen, Chen, Chuzhanova, Clark, Cooper, Cooper, Cooper, De, Ding, Dong, Du, Fleming, Greenblatt, Guo, Gusev, Iyer, Jain, Jain, Javadekar, Jeitany, Kaushik Tiwari, Kondrashov, Kouzine, Kregten, Kunkel, Kunkel, Kunkel, Lam, Lee, Levinson, León-Ortiz, Lopes, Lovett, Lu, Majumdar, Margolin, Morikawa, Mort, Mukherjee, Mukherjee, Murat, Nambiar, Patel, Raghavan, Reeves, Rosche, Rouleau, Sanders, Schofield, Sen, Sharma, Sinden, Sinden, Spurlock, Stenson, Stenson, Tappino, Vasquez, Verdin, Wang, Wells, Wickramasinghe, Williams, Wu, Wu, Wu, Wu, Yang, You, Zhao, Zhao, Zhou   +86 more
core   +1 more source

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Haematologica, 2010
Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene.
Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay   +8 more
doaj   +1 more source

A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome

Human Mutation, 2013
Brugada Syndrome (BrS) is a familial disease associated with sudden cardiac death. A 20%–25% of BrS patients carry genetic defects that cause loss‐of‐function of the voltage‐gated cardiac sodium channel. Thus, 70%–75% of patients remain without a genetic
Helena Riuró, Pedro Beltran-Alvarez, Anna Tarradas, E. Selga, Ó. Campuzano, M. Vergés, S. Pagans, A. Iglesias, J. Brugada, P. Brugada, Francisco M. Vázquez, G. Pérez, F. Scornik, R. Brugada   +13 more
semanticscholar   +1 more source

Molecular Mechanisms of Disease-Causing Missense Mutations [PDF]

Journal of Molecular Biology, 2013
Genetic variations resulting in a change of amino acid sequence can have a dramatic effect on stability, hydrogen bond network, conformational dynamics, activity and many other physiologically important properties of proteins. The substitutions of only one residue in a protein sequence, so-called missense mutations, can be related to many pathological ...
Stefl, Shannon, Nishi, Hafumi, Petukh, Marharyta, Panchenko, Anna R, Alexov, Emil   +4 more
openaire   +2 more sources

Recurrent cancer‐associated ERBB4 mutations are transforming and confer resistance to targeted therapies

Molecular Oncology, EarlyView.
We show that the majority of the 18 analyzed recurrent cancer‐associated ERBB4 mutations are transforming. The most potent mutations are activating, co‐operate with other ERBB receptors, and are sensitive to pan‐ERBB inhibitors. Activating ERBB4 mutations also promote therapy resistance in EGFR‐mutant lung cancer.
Veera K. Ojala, Sini Ahonen, Sara Peltola, Aura Tuohisto‐Kokko, Olaya Esparta, Peppi Suominen, Anne Jokilammi, Iman Farahani, Deepankar Chakroborty, Nikol Dibus, Steffen Boettcher, Tomi T. Airenne, Mark S. Johnson, Lisa D. Eli, Klaus Elenius, Kari J. Kurppa   +15 more
wiley   +1 more source

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Frontiers in Immunology, 2021
Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity.
Wenjun Mou, Shen Yang, Ruolan Guo, Libing Fu, Li Zhang, Weihong Guo, Jingbin Du, Jianxin He, Qinghua Ren, Chanjuan Hao, Jingang Gui, Jinshi Huang   +11 more
doaj   +1 more source

Genetic Suppression of Basement Membrane Defects in Caenorhabditis elegans by Gain of Function in Extracellular Matrix and Cell-Matrix Attachment Genes. [PDF]

, 2018
Basement membranes are extracellular matrices essential for embryonic development in animals. Peroxidasins are extracellular peroxidases implicated in the unique sulfilimine cross-links between type IV basement membrane collagens. Loss of function in the
Chisholm, Andrew D, Gotenstein, Jennifer R, Ho, Tiffany W, Koo, Cassidy C   +3 more
core   +2 more sources

Phenylketonuria missense mutations in the Mediterranean

Genomics, 1991
Two missense mutations have been identified in the phenylalanine hydroxylase (PAH) genes of an Italian phenylketonuria (PKU) patient. Both mutations occurred in exon 7 of the PAH gene, resulting in the substitution of Trp for Arg at amino acid 252 (R252W) and of Leu for Pro (P281L) at amino acid 281 of the protein.
Y, Okano, T, Wang, R C, Eisensmith, R, Longhi, E, Riva, M, Giovannini, R, Cerone, C, Romano, S L, Woo   +8 more
openaire   +2 more sources