Identification and in silico analysis of functional SNPs of the BRCA1 gene.
TLDR
It is proposed that an nsSNP (rs1800751) could be an important candidate for the breast cancer caused by the BRCA1 gene from a comparison of the stabilizing residues of the native and mutant proteins.About:
This article is published in Genomics.The article was published on 2007-10-01 and is currently open access. It has received 79 citations till now. The article focuses on the topics: Nonsynonymous substitution & Untranslated region.read more
Citations
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Journal ArticleDOI
The investigation of nonsynonymous SNPs of human SLC6A4 gene associated with depression: An in silico approach.
Md. Amit Hasan,Fuad Taufiqul Hakim,Md. Tanjil Islam Shovon,Md. Mirajul Islam,Md. Samiul Islam,Md. Asadul Islam +5 more
TL;DR: The findings of this study could be beneficial for developing precision medicines against diseases caused by SLC6A4 malfunction and extensive wet-lab research and experiments on various model organisms might be helpful to investigate the precise role of these damaging nsSNPs of the SLC 6A4 gene.
Dissertation
Étude du transcriptome des cellules non tumorales de l’épithélium de surface de l’ovaire des femmes porteuses d’une mutation des gènes BRCA1 et BRCA2
TL;DR: Wild-type and mutated BRCA2 allelic transcripts were expressed in tumor cells from 8765delAG BRCa2 mutation carriers, with the highest level of B RCA2 transcript expression and the highest contribution of the mutated allele in cells originating from the most aggressive ovarian tumors.
Posted ContentDOI
Computational Analysis of Single Nucleotide polymorphisms (SNPs) in Human T-Cell Acute Lymphocytic Leukemia Protein 1 (TAL1) Gene/ Comprehensive Study
Shaza W. Shantier,Hashim E. Elmansi,Mihad E. Elnnewery,Hind K. Osman,Isam-Aldin A. Osman,Fatima A. Abdelrhman,Ahmed A Yagaub,Einas M. Yousif,Alaa I. Abdalla,Rawan A Elamin,Howina S Fadol,Afra A FadlAlla,Mohamed A. Hassan +12 more
TL;DR: The present study is the first ever computational analysis of TAL1’s nsSNPs and it might be of help in the near future for inventing early diagnostic and therapeutic measures for T-ALL.
Computational Analysis of Single Nucleotide Polymorphisms in Regulator of G Protein Signaling 4 (RGS4) Gene
Rituparna Dash,K. Ramanathan +1 more
TL;DR: 5 variants namely Y165H, Y147H, SIFT, Y262H, E135H and E117H were found to have significant impact on RGS4 protein structure and function and it is inferred that these missense mutations could be important candidates for Schizophrenia caused by R GS4 gene.
Identificación y caracterización de variantes en los genes HOXC13 y HOXD13 de mujeres mexicanas con cáncer cervical
Castro García,Manuel Alejandro +1 more
TL;DR: Tesis (Maestria en Ciencias en Biotecnologia Genomica), Instituto Politecnico Nacional, CBG, 2018, 1 archivo PDF, (98 paginas).
References
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Journal ArticleDOI
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry,Minghong Ward,Michael Kholodov,Jonathan Baker,Lon Phan,Elizabeth M. Smigielski,Karl Sirotkin +6 more
TL;DR: The dbSNP database is a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, and is integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data.
Journal ArticleDOI
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
Yoshio Miki,Jeff Swensen,Donna M Shattuck-Eidens,P. Andrew Futreal,Keith D Harshman,Sean V. Tavtigian,Qingyun Liu,Charles Cochran,L. Michelle Bennett,Wei Ding,Russell Bell,Judith Rosenthal,Charles E. Hussey,Thanh Tran,Melody McClure,Cheryl Frye,Tom Hattier,Robert Phelps,Astrid Haugen-Strano,Harold Katcher,Kazuko Yakumo,Zahra Gholami,Daniel Shaffer,Steven Stone,Steven Bayer,Christian Wray,Robert Bogden,Priya Dayananth,John R. Ward,Patricia N. Tonin,Steven A. Narod,Pam K. Bristow,Frank H. Norris,Leah M. Helvering,Paul Morrison,Paul Robert Rosteck,Mei Lai,J. Carl Barrett,Cathryn M. Lewis,Susan L. Neuhausen,Lisa A. Cannon-Albright,David E. Goldgar,Roger W. Wiseman,Alexander Kamb,Mark H. Skolnick +44 more
TL;DR: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
Journal ArticleDOI
SIFT: predicting amino acid changes that affect protein function
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: SIFT is a program that predicts whether an amino acid substitution affects protein function so that users can prioritize substitutions for further study and can distinguish between functionally neutral and deleterious amino acid changes in mutagenesis studies and on human polymorphisms.
Journal ArticleDOI
Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man
Eric P. Smith,Jeff Boyd,Graeme R. Frank,Hiroyuki Takahashi,Robert M. Cohen,Bonny Specker,Timothy C. Williams,Dennis B. Lubahn,Kenneth S. Korach +8 more
TL;DR: Disruption of the estrogen receptor in humans need not be lethal and is important for bone maturation and mineralization in men as well as women.
Journal ArticleDOI
Predicting Deleterious Amino Acid Substitutions
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: A tool that uses sequence homology to predict whether a substitution affects protein function is constructed, which may be used to identify plausible disease candidates among the SNPs that cause missense substitutions.
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SIFT: predicting amino acid changes that affect protein function
Pauline C. Ng,Steven Henikoff +1 more