Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes

scientific article

Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.GDATA.2016.10.009
P932PMC publication ID5099264
P698PubMed publication ID27843768

P50authorAbdellatif BouazzaouiQ61853431
P2093author name stringMohammad Athar
Wajahatullah Khan
Zainularifeen Abduljaleel
Abulkareem Anazi
Burhan M Edrees
Faisal A Al-Allaf
Howaida Al-Edressi
Khawala Alansary
Mohiuddin M Taher
Muawia A Ahmed
Naffaa Al-Harbi
Naji Altayeb
Ramzia Safar
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PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cellsQ24311878
I-TASSER: a unified platform for automated protein structure and function predictionQ24605680
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Novel allosteric sites on Ras for lead generationQ27317333
Structural view of a fungal toxin acting on a 14-3-3 regulatory complexQ27640587
Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical featuresQ27860675
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SNPs, protein structure, and disease.Q30328103
Mapping SNPs to protein sequence and structure data.Q30349871
Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische NephrologieQ33595575
Towards a structural basis of human non-synonymous single nucleotide polymorphismsQ33899435
Molecular diagnostics for autosomal dominant polycystic kidney diseaseQ34100184
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Genetics and pathogenesis of polycystic kidney disease.Q34145624
SNAP: predict effect of non-synonymous polymorphisms on functionQ34631704
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphologyQ34746312
Comprehensive in silico mutagenesis highlights functionally important residues in proteinsQ34806039
In silico mutagenesis: a case study of the melanocortin 4 receptorQ34979349
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.Q35644199
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeatsQ35764727
Identification of rare cancer driver mutations by network reconstructionQ37363146
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney diseaseQ38444988
Free energy via molecular simulation: applications to chemical and biomolecular systemsQ38648060
Unified criteria for ultrasonographic diagnosis of ADPKD.Q41829694
Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North AmericaQ44503166
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneQ48286475
Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0.Q50602336
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)Q57908853
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney diseaseQ59619315
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney diseaseQ68642512
Computerized tomography and ultrasound in the diagnosis of cerebro-hepato-renal syndrome of ZellwegerQ68946084
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cenQ72703024
Predicting protein stability changes upon mutation using database-derived potentials: solvent accessibility determines the importance of local versus non-local interactions along the sequenceQ73702777
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genesQ81963903
Fixing the front endQ82255339
P407language of work or nameEnglishQ1860
P304page(s)127-134
P577publication date2016-11-03
P1433published inGenomics DataQ27725685
P1476titleFunctional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes
P478volume10

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cites work (P2860)
Q90929271A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation
Q39375147Dolichol phosphate mannose synthase: a Glycosyltransferase with Unity in molecular diversities.
Q93128241Exome sequencing of Saudi Arabian patients with ADPKD
Q64269744Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease

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