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DOMINE: a comprehensive collection of known and predicted domain-domain interactions

Sailu Yellaboina, Asba Tasneem, Dmitri V. Zaykin, Balaji Raghavachari, Raja Jothi
2010 Nucleic Acids Research  
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

Balaji Raghavachari, Asba Tasneem, Teresa M. Przytycka, Raja Jothi
2007 Nucleic Acids Research  
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

Zhi-Bo Lin, Jin Li, Lu Ye, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen, Fen-Fen Li
2022 BMC Ophthalmology  
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

Chandra Sanwal, Karim Nooruddin, Chirag Patel, Tiannan Zhang, Anita Bhagavathula, Steven Gates, Antonio Guzman
2019 Journal of Clinical & Experimental Nephrology  
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

Lori S. Sullivan, Daniel C. Koboldt, Sara J. Bowne, Steven Lang, Susan H. Blanton, Elizabeth Cadena, Cheryl E. Avery, Richard A. Lewis, Kaylie Webb-Jones, Dianna H. Wheaton, David G. Birch, Razck Coussa (+9 others)
2014 Investigative Ophthalmology and Visual Science  
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

Michael Köttgen
2007 Biochimica et Biophysica Acta - Molecular Basis of Disease  
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

Frederico Moraes Ferreira, Elieser Hitoshi Watanabe, Luiz Fernando Luiz Fernando
2015 Polycystic Kidney Disease  
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]

Margot A Cousin, Keith A. Breau, Blake A. Creighton, Rebecca C. Spillman, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Kathryn M. Harper, Michael C. Stankewich, Richard E. Person, Yue Si (+55 others)
2020 medRxiv   pre-print
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

Bruno Messerli, Martin Grosjean, Thomas Hofer, Lautaro Núñez, Christian Pfister
2000 Quaternary Science Reviews  
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]

Bruno Messerli, Martin Grosjean, Thomas Hofer, Lautaro Núñez, Christian Pfister
2001 Understanding the Earth System  
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]

Michael W Dorrity, Christine Queitsch, Stanley Fields
2018 bioRxiv   pre-print
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

Chao-Jung Hsu
2008 2008 International Conference on Cyberworlds  
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

S. Rossetti, M. B. Consugar, A. B. Chapman, V. E. Torres, L. M. Guay-Woodford, J. J. Grantham, W. M. Bennett, C. M. Meyers, D. L. Walker, K. Bae, Q. Zhang, P. A. Thompson (+2 others)
2007 Journal of the American Society of Nephrology  
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

Paul Rozin, Edward B. Royzman
2001 Personality and Social Psychology Review  
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

Belinda Gray, Richard D. Bagnall, Lien Lam, Jodie Ingles, Christian Turner, Eric Haan, Andrew Davis, Pei-Chi Yang, Colleen E. Clancy, Raymond W. Sy, Christopher Semsarian
2016 Heart Rhythm  
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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