Results 61 to 70 of about 1,544,422 (378)

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

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

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

Oncogenic NRAS Mutation in Incipient Sarcomatous Transformation of Cystic Nephroma From a Patient With DICER1‐Related Tumor Predisposition Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Anaplastic sarcoma of the kidney (ASK) is a DICER1‐associated malignant tumor presumed to arise in a benign precursor, pediatric cystic nephroma (PCN). However, the initial oncogenic alteration(s) associated with malignant transformation are unknown.
Nahir Cortes‐Santiago, Sarah B. Whittle, Sarah Scollon, Sharon E. Plon, Sanjeev Vasudevan, Bryony J. Lucas, Angshumoy Roy   +6 more
wiley   +1 more source

Noncatalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo

Genes & Development, 2015
Caserta et al. generated and analyzed Pten knock-in mice harboring a C2 domain missense mutation at phenylalanine 341 (PtenFV), found in human cancer.
Enrico Caserta, Onur Egriboz, Hui Wang, Chelsea K Martin, C. Koivisto, T. Pécot, R. Kladney, Changxian Shen, K. Shim, Thac Pham, Matthew K. Karikomi, Melissa J Mauntel, S. Majumder, M. Cuitiño, Xing Tang, Arunima Srivastava, Lianbo Yu, J. Wallace, X. Mo, Morag Park, S. Fernandez, R. Pilarski, K. L. La Perle, T. Rosol, V. Coppola, D. Castrillon, C. Timmers, D. Cohn, D. O’Malley, F. Backes, A. Súarez, P. Goodfellow, H. Chamberlin, Erin R. Macrae, C. Shapiro, Michael C. Ostrowski, G. Leone   +36 more
semanticscholar   +1 more source

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

Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions

FEBS Letters, EarlyView.
Mutant p53 gain‐of‐function is thought to be mediated by interaction with other transcription factors. We identify multiple ETS transcription factors that can bind mutant p53 and found that this interaction can be promoted by a PXXPP motif. ETS proteins that strongly bound mutant p53 were upregulated in ovarian cancer compared to ETS proteins that ...
Stephanie A. Metcalf, Nicholas F. Downing, Kaitlyn M. Mills, Samuel C. Metcalfe, Alexander E. Kritzer, Lindsey D. Mayo, Peter C. Hollenhorst   +6 more
wiley   +1 more source

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience

Biomedicines
Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ...
Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean-Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci   +19 more
doaj   +1 more source

Characterization and prognostic value of mutations in exons 5 and 6 of the p53 gene in patients with colorectal cancers in central Iran [PDF]

, 2013
Background/Aims: We aimed to investigate the relation-ships among various mutations of the p53 gene and their protein products, histological characteristics, and disease prognosis of primary colorectal cancer in Isfahan, central Iran.
Anwar, Bazan, Carson, Chang, Chang, Coombs, Cunningham, Derakhshan, Diez, Duffy, Erster, Gryfe, Hollstein, Jemal, Karsa, Kato, Lam, Leahy, Levine, Lim, Mahdavinia, Markowitz, Mehdi Nikbakht, Mohammad H. Derakhshan, Mohammad J. Namazi, Mohammad Salehi, Molleví, Mousavi, Munro, Nasierowska-Guttmejer, Nunes, Pan, Rahim Golmohammadi, Rogel, Russo, Ryan, Sadjadi, Schmitt, Slattery, Tang, Theodoropoulos, Tominaga, Vogelstein, Yamashita, Yee, Zhang, Zhao   +46 more
core   +1 more source

PARP inhibitors elicit distinct transcriptional programs in homologous recombination competent castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
PARP inhibitors are used to treat a small subset of prostate cancer patients. These studies reveal that PARP1 activity and expression are different between European American and African American prostate cancer tissue samples. Additionally, different PARP inhibitors cause unique and overlapping transcriptional changes, notably, p53 pathway upregulation.
Moriah L. Cunningham, Jasibel Vasquez‐Gonzalez, Samantha M. Barnada, Salome Tchotorlishvili, Latese Jones, Ryan Maguire, Genevieve Lewis, Kinza Rizwan, Jenny Deng, Salma Koachar, Drithi Patel, Hailey Shankle, Tessa Mulders, Namra Ajmal, Charalambos Solomides, Emad S. Alnemri, Teresa F. Alnemri, Ayesha A. Shafi, Leonard G. Gomella, Wm Kevin Kelly, Steven B. McMahon, Matthew J. Schiewer   +21 more
wiley   +1 more source