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DOMINE: a comprehensive collection of known and predicted domain-domain interactions
2010
Nucleic Acids Research
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DOMINE is a comprehensive collection of known and predicted domain-domain interactions (DDIs) compiled from 15 different sources. ...
DOMINE will serve as a valuable resource to those studying protein and domain interactions. ...
Conflict of interest statement. None declared. ...
doi:10.1093/nar/gkq1229
pmid:21113022
pmcid:PMC3013741
fatcat:7thprdvunnfdrfbcqhigcjfxju
DOMINE: a database of protein domain interactions
2007
Nucleic Acids Research
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DOMINE is a database of known and predicted protein domain interactions compiled from a variety of sources. ...
DOMINE contains a total of 20 513 unique domain-domain interactions among 4036 Pfam domains, out of which 4349 are inferred from PDB entries and 17 781 were predicted by at least one computational approach ...
T.M.P. and R.J. were supported by the Intramural Research Program of the National Library of Medicine, NIH. Funding to pay the Open Access publication charges for this article was provided by NIH. ...
doi:10.1093/nar/gkm761
pmid:17913741
pmcid:PMC2238965
fatcat:zayfjpmhkvgy3e53rgiqeoxcbu
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
2022
BMC Ophthalmology
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Variant p.Ala99Ser was located in a conservation high mobility group (HMG)-box domain in SOX2 protein, with a potential pathogenic impact of p.Ala99Ser on protein level. ...
Purpose To unravel the genetic cause of autosomal dominant family with CCMC. ...
Acknowledgements The authors thank the affected patients and their parents for their participation in the study. The authors acknowledge the entire staff of the Eye hospital for their support. ...
doi:10.1186/s12886-022-02291-4
pmid:35148715
pmcid:PMC8840263
fatcat:mwl54ihlmfdzdncou2dhp5xa5y
Genetic Mutations in Autosomal Dominant Polycystic Kidney Disease Type-1
2019
Journal of Clinical & Experimental Nephrology
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There are various genetic forms of PKD: autosomal dominant type 1 (ADPKD1), type 2 (ADPKD2) and even a third type (ADPKD3) is known to exist. There is also a recessive form of PKD (ARPKD). ...
The autosomal dominant type is caused due a single defective dominant gene in a single chromosome of the homologous pair among the autosomes and the recessive type is caused due to defect in both genes ...
LDL-A domain Downstream to the C-type lectin domain, encoded from exon 10, is a region consisting of about 40 amino acids, known as LDL-A (lippoprotein A) domain. ...
doi:10.21767/2472-5056.100074
fatcat:3ivctbbjhzgzpgtx3ootyw3jxa
A Dominant Mutation in Hexokinase 1 (HK1) Causes Retinitis Pigmentosa
2014
Investigative Ophthalmology and Visual Science
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To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP). ...
Screening of additional adRP probands identified four other families (American, Canadian, and Sicilian) with the same mutation and a similar range of phenotypes. ...
We thank the eyeGENE Network participants and National Eye Institute/National Institutes of Health staff for their valuable contributions to this research. ...
doi:10.1167/iovs.14-15419
pmid:25190649
pmcid:PMC4224580
fatcat:dfrx65q2p5hvhkndnutyxhym6i
TRPP2 and autosomal dominant polycystic kidney disease
2007
Biochimica et Biophysica Acta - Molecular Basis of Disease
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Mutations in TRPP2 (polycystin-2) cause autosomal dominant polycystic kidney disease (ADPKD), a common genetic disorder characterized by progressive development of fluid-filled cysts in the kidney and ...
This review summarizes the known and emerging functions of TRPP2, focusing on the question of how channel function translates into complex morphogenetic programs regulating tubular structure. ...
I also thank members of the Walz-, Montell-, and Watnick-Germino-laboratories for the many stimulating discussions. ...
doi:10.1016/j.bbadis.2007.01.003
pmid:17292589
fatcat:jcsh375e4jcbliim2ovyoc5jjm
Polycystins and Molecular Basis of Autosomal Dominant Polycystic Kidney Disease
[chapter]
English
2015
Polycystic Kidney Disease
English
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In addition, disruption of PC1 C-terminus interactions with components of Wnt, mTOR, STAT3 and JAK2/STAT1 pathways is translated into a number of intracellular pathway abnormalities. ...
PKD1 encodes polycystin-1 (PC1), a likely transmembrane mechano-sensor receptor comprised of a singular combination of structural domains present in other proteins. ...
Acknowledgement We thank Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP, grant #2013/02162-8) for the support to this work. ...
doi:10.15586/codon.pkd.2015.ch7
fatcat:c2feb56spncz5jh2mbuhtdi62m
Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome
[article]
2020
medRxiv
pre-print
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We show that these SPTBN1 variants lead to loss-of-function, gain-of-function, and dominant negative effects that affect protein stability, disrupt binding to key protein partners, and affect cytoskeleton ...
Our studies define the genetic basis of this new neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and neural development, and underscore the critical role of βII-spectrin ...
Figure 4i summarizes the key predicted interacting residues at the CH1-CH2 interface and 342 the structural consequences of the variants in those domains. ...
doi:10.1101/2020.08.31.20184481
fatcat:bhigtmxhlrbiznknqbcgqlmh5i
From nature-dominated to human-dominated environmental changes
2000
Quaternary Science Reviews
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dominant processes of human forcing, E a focus on overexploited or limited natural resources and on vulnerable and critical regions, E fuller use of our understanding of variability on a range of di! ...
It becomes more and more evident that major natural processes from the local to the global level are in#uenced by human activities, creating a much higher degree of complexity through the interaction of ...
Rather, accusations drew on a combination of outstanding cold shocks which were beyond known experience in the peasant villages which su!ered large collective damage. ...
doi:10.1016/s0277-3791(99)00075-x
fatcat:tplxxnhqt5edljinmsk3kmq2zi
From Nature-Dominated to Human-Dominated Environmental Changes
[chapter]
2001
Understanding the Earth System
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dominant processes of human forcing, E a focus on overexploited or limited natural resources and on vulnerable and critical regions, E fuller use of our understanding of variability on a range of di! ...
It becomes more and more evident that major natural processes from the local to the global level are in#uenced by human activities, creating a much higher degree of complexity through the interaction of ...
Rather, accusations drew on a combination of outstanding cold shocks which were beyond known experience in the peasant villages which su!ered large collective damage. ...
doi:10.1007/978-3-642-56843-5_13
fatcat:xq7li2hrnvbkjpe6q3yponil2y
High-throughput identification of dominant negative polypeptides in yeast
[article]
2018
bioRxiv
pre-print
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The method uncovers numerous inhibitory polypeptides for a protein and thus is capable of defining interacting domains with exquisite resolution, even pinpointing individual residues that contact ligands ...
Here, we use high-throughput sequencing of DNA libraries composed of fragments of yeast genes to identify dominant negative polypeptides based on their depletion during cell growth. ...
Figure 1 . 1 Dominant negative polypeptides can be identified in high-throughput and correspond to known protein domains. ...
doi:10.1101/418608
fatcat:nwxas34ci5d3xe6qvornxa7ane
Dominant Factors for Online Trust
2008
2008 International Conference on Cyberworlds
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A survey method was used for data collection in this study. A total of 172 usable questionnaires were collected from respondents. ...
The seven dominant factors are reputation, thirdparty assurance, customer service, propensity to trust, website quality, system assurance and brand. ...
Reference [5] called for specifying the domain and connotative meaning of the trust construct in the context of a certain discipline. ...
doi:10.1109/cw.2008.21
dblp:conf/cw/Hsu08
fatcat:kvx4g3gcyze37fe5cztwyodyt4
Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease
2007
Journal of the American Society of Nephrology
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Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, duplication of PKD1, and a high ...
The Grantham Matrix Score was used to score the significance of the substitution and the conservation of the residue in orthologs and defined domains. ...
resembled a known variant; the remainder were identified by signature-based genotyping. 34
DS of PKD1 and PKD2 and Confirmation of Mutations DS was performed on a fee-for-service basis using a commercial ...
doi:10.1681/asn.2006121387
pmid:17582161
fatcat:32dscsrotre6piremrsvwv6bri
Negativity Bias, Negativity Dominance, and Contagion
2001
Personality and Social Psychology Review
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the algebraic sum of individual subjective valences would predict), and (d) negative differentiation (negative entities are more varied, yield more complex conceptual representations, and engage a wider ...
with approach to them in space or time than does the positivity of positive events, (c) negativity dominance (combinations of negative and positive entities yield evaluations that are more negative than ...
Skowronski and Carlston (1989) offered a comprehensive review of theories and proposed a category diagnosticity theory. ...
doi:10.1207/s15327957pspr0504_2
fatcat:q6wdpaosq5aozg5rh6px3ymica
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia
2016
Heart Rhythm
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A comprehensive analysis of cardiac arrhythmia genes did not reveal a pathogenic variant. ...
Computer simulations predicted that haploinsufficiency was unlikely to cause the severe CPVT phenotype and suggested a dominant negative mechanism. ...
In silico prediction tools CADD, SIFT, Mutation Taster, and GERP demonstrate the variant to be in a conserved domain with a predicted deleterious effect on protein function; Polyphen-2 predicts the variant ...
doi:10.1016/j.hrthm.2016.05.004
pmid:27157848
pmcid:PMC5453511
fatcat:rmqp7hql6jdjxopfr4bg5gixca
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