Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Mark B, Consugar"'
Autor:
Moonnoh R. Lee, Mark B. Consugar, Vicente E. Torres, Daniel G. Bichet, Eliecer Coto, Edgar Almeida, Jamie L. Sundsbak, Maurizio Clementi, Katharina Hopp, Vickie J. Kubly, Sandro Rossetti, Peter C. Harris, Nadja Bogdanova, Christina M. Heyer, Binu M. Paul
Publikováno v:
Kidney International. 85:383-392
Mutations to PKD1 and PKD2 are associated with autosomal dominant polycystic kidney disease (ADPKD). The absence of apparent PKD1/PKD2 linkage in five published European or North American families with ADPKD suggested a third locus, designated PKD3 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca9d521855023ad28c7ffdf664854c7
https://doi.org/10.1038/ki.2013.227
https://doi.org/10.1038/ki.2013.227
Autor:
Marie C. Hogan, Peter C. Harris, Erik G. Puffenberger, V. Shane Pankratz, Mark B. Consugar, Vickie J. Kubly, Jose S. Pulido, Brian G. Mohney, Stephen J. Smith, Rebecca Nielson, Noralane M. Lindor, Samih H. Nasr, Lama El-Dahdah, Kevin A. Strauss, Justin P. Peters, Dorothy Spencer, D. Holmes Morton, James M. Gloor
Publikováno v:
Ophthalmology. 118:1137-1144
Purpose To describe a novel laminin β-2 ( LAMB2 ) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome. Design Retrospective chart review and prospective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2316b6d9c8dc23fc9f28bdc6a4057dfd
https://doi.org/10.1016/j.ophtha.2010.10.009
https://doi.org/10.1016/j.ophtha.2010.10.009
Autor:
Jane Hartley, Christopher J. Ward, Sandro Rossetti, Mark B. Consugar, Peter C. Harris, Deirdre A Kelly, Christopher O'Callaghan
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Biliary atresia (BA) is an obliterative cholangiopathy presenting in the newborn period that leads to biliary cirrhosis and the need for liver transplantation in infancy unless treated early with a palliative Kasai portoenterostomy. BA is the most fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba458f6a90897149e963fa5ea797e708
https://doi.org/10.1097/mpg.0b013e318200eb6f
https://doi.org/10.1097/mpg.0b013e318200eb6f
Autor:
Denise L. Walker, Paul M. Thompson, Peter C. Harris, Lisa M. Guay-Woodford, J. Philip Miller, Sandro Rossetti, Kyongtae T. Bae, Mark B. Consugar, William M. Bennett, Arlene B. Chapman, Catherine M. Meyers, Qin Zhang, Jared J. Grantham, Vicente E. Torres
Publikováno v:
Journal of the American Society of Nephrology. 18:2143-2160
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 level of unclassified variants (UCV). Present mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774283b05e04042764651a83f2bf53df
https://doi.org/10.1681/asn.2006121387
https://doi.org/10.1681/asn.2006121387
Autor:
Mark B. Consugar, Lisa M. Guay-Woodford, Bernard F. King, Philip J. Kenney, Qin Jean Zhang, Louis H. Wetzel, Vicente E. Torres, Catherine M. Meyers, Kyongtae T. Bae, Fang Zhu, Paul M. Thompson, Saulo Klahr, Jared J. Grantham, Deborah A. Baumgarten, William M. Bennett, J. Philip Miller, Sandro Rossetti, Peter C. Harris, Arlene B. Chapman
Publikováno v:
Journal of the American Society of Nephrology. 17:3013-3019
Data from serial renal magnetic resonance imaging of the Consortium of Radiologic Imaging Study of PKD (CRISP) autosomal dominant polycystic kidney disease (PKD) population showed that cystic expansion occurs at a consistent rate per individual, alth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d676e5fc8cd04f5ea0f4b1271ed621
https://doi.org/10.1681/asn.2006080835
https://doi.org/10.1681/asn.2006080835
Autor:
Robert J. Kolb, Mark B. Consugar, Francis J. Alenghat, Jing Zhou, Surya M. Nauli, Mahmoud Loghman-Adham, Donald E. Ingber, Peter C. Harris, Sandro Rossetti
Publikováno v:
Journal of the American Society of Nephrology. 17:1015-1025
A "two-hit" hypothesis predicts a second somatic hit, in addition to the germline mutation, as a prerequisite to cystogenesis and has been proposed to explain the focal nature for renal cyst formation in autosomal dominant polycystic kidney disease (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05cf9ed7be98c72182c6d4d2b0dd6bf4
https://doi.org/10.1681/asn.2005080830
https://doi.org/10.1681/asn.2005080830
Autor:
Erin N. Goranson, Shanaz Pasha, Martine Bucourt, Lihadh Al-Gazali, Phillip Cox, Neil V. Morgan, Mark B. Consugar, Caroline A. Miller, Stacie Lilliquist, Saghira Malik Sharif, Christopher P. Bennett, Irene A. Aligianis, Brandy M McKee, Colin A. Johnson, Eamonn R. Maher, Louise J. Tee, Christopher J. Ward, Carole McKeown, Richard C. Trembath, Tania Attié-Bitach, Deirdre Kelly, Vincent H. Gattone, Ursula M Smith, Peter C. Harris, Rachaneekorn Punyashthiti, Shelly Whelan, Philip A Batman, Esther N. Maina, Vicente E. Torres, C. Geoffrey Woods, Paul Gissen
Publikováno v:
Nature Genetics. 38:191-196
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital encephalocele), hepatic ductal dysplasia and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b79a5734ac29ef052fb4f35fae33aa08
https://doi.org/10.1038/ng1713
https://doi.org/10.1038/ng1713
Autor:
Patrick S. Kamath, Peter C. Harris, Mounif El-Youssef, Vickie J. Kubly, Magdalena Adeva, Mark B. Consugar, Vicente E. Torres, Sandro Rossetti, Dawn M. Milliner, Bernard F. King
Publikováno v:
Medicine. 85:1-21
The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys detected in utero or within the neonatal period, often resulting in ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfaf2d8404bcdaecec575e5529ce6773
https://doi.org/10.1097/01.md.0000200165.90373.9a
https://doi.org/10.1097/01.md.0000200165.90373.9a
Autor:
Daniele Ghezzi, Mark A. Johnson, Mai Tsukikawa, Xiaowu Gai, Satish Srinivasan, Claire A. Sheldon, Thomas Meitinger, Eric A. Pierce, Christopher P. Raab, Emily Place, Aurelio Reyes, Mustafa A. Salih, Wolfgang Sperl, Alan J. Robinson, Holger Prokisch, Lee-Jun C. Wong, Caroline Biagosch, Erzsebet Polyak, Massimo Zeviani, Johannes A. Mayr, Emtethal Al-Jishi, Rossella Parini, Tobias B. Haack, Marni J. Falk, Charles Bean, Costanza Lamperti, Thomas Wieland, Matteo Gorza, Hanan E. Shamseldin, Julian Ostrovsky, Peter Freisinger, Fowzan S. Alkuraya, Neal Sondheimer, Martina Huemer, Vassiliki Konstantopoulou, Sara Vidoni, Francesca Furlan, Laura S. Kremer, Tim M. Strom, Mark B. Consugar
Publikováno v:
American journal of human genetics. 93(3)
Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26aee8ac4a7da89a007e50bce7d4b937
https://pubmed.ncbi.nlm.nih.gov/23993194
https://pubmed.ncbi.nlm.nih.gov/23993194
Autor:
Irina V. G. Graf, Louis H. Pignolet, Larry N. Ito, Jeffrey W. Bacon, Mark B. Consugar, Michael E. Curley
Publikováno v:
Inorganic Chemistry. 35:689-694
Cationic, phosphine-ligated Pt-Au cluster compounds, [Pt(AuPPh{sub 3}){sub 8}](NO{sub 3}){sub 2} (1) and [(PPh{sub 3})Pt(AuPPh{sub 3}){sub 6}](NO{sub 3}){sub 2} (2), have been immobilized on silica and alumina supports. Characterization of the suppor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::951b1e0aa9609265a1c1fb972f31424d
https://doi.org/10.1021/ic9504147
https://doi.org/10.1021/ic9504147