SNPs, protein structure, and disease

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Human Mutation

• Publication date

  2001-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/HUMU.22PMID 11295823
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Towards a structural basis of human non-synonymous single nucleotide polymorphisms.

  2000cited by this paper
• Human Gene Mutation Database—A biomedical information and research resource

  2000cited by this paper
• Comparative protein structure modeling of genes and genomes.

  2000cited by this paper
• Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

  1999influential reference
• ⃛ as consortium plans free SNP map of human genome

  1999cited by this paper
• Characterization of single-nucleotide polymorphisms in coding regions of human genes

  1999influential reference
• Setting the standards: quality control in the secretory pathway.

  1999cited by this paper
• Characterization of single-nucleotide polymorphisms in coding regions of human genes

  1999cited by this paper
• Genomics and hypertension: concepts, potentials, and opportunities.

  1999cited by this paper
• The essence of SNPs.

  1999cited by this paper
• First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders

  1999cited by this paper
• Sjögren–Larsson syndrome

  1999cited by this paper
• Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.

  1999cited by this paper
• A DNA polymorphism discovery resource for research on human genetic variation.

  1998cited by this paper
• Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.

  1998cited by this paper
• It's raining SNPs, hallelujah?

  1998cited by this paper
• Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms.

  1998cited by this paper
• Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren‐Larsson syndrome

  1998cited by this paper
• The response of T4 lysozyme to large‐to‐small substitutions within the core and its relation to the hydrophobic effect

  1998influential reference
• Variations on a Theme: Cataloging Human DNA Sequence Variation

  1997cited by this paper
• Bayesian statistical analysis of protein side‐chain rotamer preferences

  1997cited by this paper
• Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.

  1996cited by this paper
• Characterization of E-selectin-deficient mice: demonstration of overlapping function of the endothelial selectins.

  1994cited by this paper
• Disulfide bonds and the stability of globular proteins

  1993cited by this paper
• Contribution of hydrogen bonding to the conformational stability of ribonuclease T1.

  1992influential reference
• Response of a protein structure to cavity-creating mutations and its relation to the hydrophobic effect.

  1992influential reference
• Expression of Functional Coagulation Factor XIII in Escherichia coli

  1990cited by this paper
• Strength and co-operativity of contributions of surface salt bridges to protein stability.

  1990influential reference
• Basic local alignment search tool.

  1990cited by this paper
• Improved tools for biological sequence comparison.

  1988cited by this paper
• Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.

  1987cited by this paper
• Proteins: Structures and Molecular Properties

  1986cited by this paper
• Selective constraint in protein polymorphism: study of the effectively neutral mutation model by using an improved pseudosampling method.

  1983cited by this paper
• Physiology and Pathology of Blood Coagulation A Review of the Literature of 1964 (Second Series)

  1965cited by this paper

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• Functional evaluation of NAA10 variants in patients with Ogden syndrome.

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• Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

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• Machine learning enabled protein secondary structure characterization using drop-coating deposition Raman spectroscopy.

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• ActiMut-XGB: Predicting thermodynamic stability of point mutations for CALB with protein language model.

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• Statistical Thermodynamics of the Protein Ensemble: Mediating Function and Evolution.

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• In-silico structural and functional analysis of nonsynonymous single nucleotide polymorphisms in human FOLH1 gene

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• Functionally constrained human proteins are less prone to mutational instability from single amino acid substitutions

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• Interleukin-6 And Interleukin-10 Polymorphisms In Chronic Lymphoid Leukemia Patients

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