Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Piya Lahiry"'
Autor:
Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar, Robert A. Hegele
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 73-80 (2014)
Abstract Iron‐sulfur (Fe‐S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins that contain them, Fe‐S proteins, to assist in various key biochemical pathways. Mutat
Externí odkaz:
https://doaj.org/article/1eb51256fe8f4b6ca24045e47c3b068a
Autor:
Piya Lahiry, Henian Cao, Matthew R. Ban, Rebecca L. Pollex, Mary Mamakeesick, Bernard Zinman, Stewart B. Harris, Anthony J.G. Hanley, Murray W. Huff, Philip W. Connelly, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 51, Iss 4, Pp 843-848 (2010)
Apolipoprotein (apo) C-I is a constituent of chylomicrons, very low density lipoprotein, and high density lipoprotein. The role of apo C-I in human metabolism is incompletely defined. We took advantage of a naturally occurring amino acid polymorphism
Externí odkaz:
https://doaj.org/article/20d928eb15f7486ca205a761e9c5a8c3
Autor:
Piya Lahiry, Leo J Lee, Brendan J Frey, C Anthony Rupar, Victoria M Siu, Benjamin J Blencowe, Robert A Hegele
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e25400 (2011)
Transcriptome profiling of patterns of RNA expression is a powerful approach to identify networks of genes that play a role in disease. To date, most mRNA profiling of tissues has been accomplished using microarrays, but next-generation sequencing ca
Externí odkaz:
https://doaj.org/article/0e1622b55c4142d5abbb0db4e4b833b3
Autor:
Piya Lahiry, Sergey Naumenko, Madeline Couse, Fangming Liao, Daniela Dominguez, Andrea Knight, Deborah M. Levy, Melissa Misztal, Lawrence W.K. Ng, Linda T. Hiraki
Publikováno v:
The Journal of Rheumatology. 49:1146-1151
ObjectiveMacrophage activation syndrome (MAS), a life-threatening complication of systemic lupus erythematosus (SLE), resembles familial hemophagocytic lymphohistiocytosis (HLH), an inherited disorder of hyperinflammation. We compared the proportion
Autor:
Chitra Prasad, Piya Lahiry, C. Anthony Rupar, John F. Robinson, Jonathan B. Kronick, Jian Wang, Robert A. Hegele, David A. Ramsay, Victoria Mok Siu, Sali M.K. Farhan
Publikováno v:
Molecular Genetics & Genomic Medicine. 2:73-80
Iron-sulfur (Fe-S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins that contain them, Fe-S proteins, to assist in various key biochemical pathways. Mutations in Fe-S pr
Autor:
Oud, Machteld, Bonnard, Carine, Mans, Dorus, Altunoglu, Umut, Sumanty Tohari, Ng, Alvin, Ascia Eskin, Lee, Hane, C. Rupar, Wagenaar, Nathalie, Wu, Ka, Piya Lahiry, Pazour, Gregory, Nelson, Stanley, Hegele, Robert, Roepman, Ronald, HĂźlya Kayserili, Byrappa Venkatesh, Siu, Victoria, Reversade, Bruno, Arts, Heleen
Additional file 5: Figure S3. Different classes of ciliary phenotypes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc598e7379ea4e406a358e2a35c0c19
Publikováno v:
Biochemistry Publications
With advances in high-throughput genotyping technologies, the rate-limiting step of large-scale genetic investigations has become the collection of sensitive and specific phenotype information in large samples of study participants. Clinicians play a
Publikováno v:
Bio tribune magazine. 30:25-32
Le syndrome metabolique (SMet) est un phenotype courant qui se manifeste chez quelque 24 % de la population des Etats-Unis. Il est associe a un risque accru de diabete de type 2 et de la maladie cardiovasculaire. Meme s’il n’existe pas de definit
Autor:
Kevin A. Strauss, Robert A. Hegele, C. Anthony Rupar, John F. Robinson, Matthew B. Lanktree, Jian Wang, David W. Litchfield, Mildred B. Martens, David A. Ramsay, Victoria Mok Siu, Piya Lahiry, Jacob P. Turowec, Erik G. Puffenberger, Gregory B. Gloor
Publikováno v:
Robarts Vascular Research Publications
Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and sk
Autor:
Machteld M. Oud, C. Anthony Rupar, Victoria Mok Siu, Ronald Roepman, Dorus A. Mans, Alvin Yu Jin Ng, Bruno Reversade, Ascia Eskin, Carine Bonnard, Gregory J. Pazour, Byrappa Venkatesh, Umut Altunoglu, Hane Lee, Nathalie P. de Wagenaar, Heleen H. Arts, Ka Man Wu, Sumanty Tohari, Hülya Kayserili, Robert A. Hegele, Piya Lahiry, Stanley F. Nelson
Publikováno v:
Cilia
Paediatrics Publications
Cilia, 5, pp. 8
Cilia, 5, 8
Paediatrics Publications
Cilia, 5, pp. 8
Cilia, 5, 8
Background: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndro