Kelaginamane T. Hiriyanna
University of Michigan
Network
Latest external collaboration on country level. Dive into details by clicking on the dots.
Publication
Featured researches published by Kelaginamane T. Hiriyanna.
Human Mutation | 1999
Kelaginamane T. Hiriyanna; Eve L. Bingham; Beverly M. Yashar; Radha Ayyagari; Gerald A. Fishman; Kent W. Small; David V. Weinberg; Richard G. Weleber; Richard Alan Lewis; Sten Andréasson; Julia E. Richards; Paul A. Sieving
Juvenile retinoschisis is an X‐linked recessive disease caused by mutations in the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of our families (Retinoschisis Consortium, Hum Mol Genet 1998;7:1185–1192). Twenty‐three different mutations including 12 novel ones were identified in 28 patients. Mutations identified in this study include 19 missense mutations, two nonsense mutations, one intragenic deletion, four microdeletions, one insertion, and one intronic sequence substitution that is likely to result in a splice site defect. Two novel mutations, c.38T→C (L13P) and c.667T→C (C223R), respectively, present the first genetic evidence for the functional significance of the putative leader peptide sequence and for the functional significance at the carboxyl terminal of the XLRS1 protein beyond the discoidin domain. Mutations in 25 of the families were localized to exons 4–6, emphasizing the critical functional significance of the discoidin domain of the XLRS1 protein. Hum Mutat 14:423–427, 1999.
Human Heredity | 1996
Hemant Pawar; Eve L. Bingham; Kelaginamane T. Hiriyanna; Meridee Segal; Julia E. Richards; Paul A. Sieving
We studied 17 pedigrees with 108 affected males with X-linked juvenile retinoschisis (RS; McKusick No. 31270) and have analyzed all of the known polymorphic markers in the RS region of Xp22.1-p22.2 between DXS987 and DXS41. By haplotype analyses we found 7 individuals who showed crossovers in this interval surrounding RS. We previously reported AFM291wf5 as the centromeric boundary, and this remains unchanged in the present study. A new recombination was identified on the telomeric side at (DXS1195, DXS418). Our data support the locus order Xpter--(DXS987, DXS207, DXS1053, DXS43)--(DXS1195, DXS418)--(RS, DXS257, DXS999)--(AFM291wf5, DXS443)--DXS1052--(DXS1226, DXS274, DXS41)--Xcen; loci grouped in parentheses could not be mutually ordered by our genetic data. Physical mapping has indicated a distance of at most 900-1,000 kb between (DXS1195, DXS418) and AFM291wf5. No recombination was observed between RS and DXS257 which lies in our new interval of interest, but one critical individual was not informative with this marker. Our data now define the smallest RS inclusion interval. This interval is contained on a single YAC from which we have identified expressed sequences as candidate genes for RS.
Archive | 2001
Kelaginamane T. Hiriyanna; Rita Singh-Parikshak; Eve L. Bingham; Jennifer Kemp; Radha Ayyagari; Beverly M. Yashar; Paul A. Sieving
We have analyzed 145 RS families for mutations in the XLRS1 gene and have sought clinical correlation of phenotype severity with the type and location of mutation in a subset of these families. Some of the RS families exhibited consistency of either severe or mild clinical phenotypes in multiple affected male members. Intrafamilial variability of clinical phenotypes was encountered in affected males of several other RS families.
Archives of Ophthalmology | 2000
Louise Eksandh; Vesna Ponjavic; Radha Ayyagari; Eve L. Bingham; Kelaginamane T. Hiriyanna; Sten Andréasson; Berndt Ehinger; Paul A. Sieving
American Journal of Ophthalmology | 1999
Paul A. Sieving; Eve L. Bingham; Jennifer Kemp; Julia E. Richards; Kelaginamane T. Hiriyanna
Journal of Neurophysiology | 2005
Naheed W. Khan; Mineo Kondo; Kelaginamane T. Hiriyanna; Jeffrey A. Jamison; Ronald A. Bush; Paul A. Sieving
Investigative Ophthalmology & Visual Science | 1996
Kelaginamane T. Hiriyanna; Hemant Pawar; Eve L. Bingham; Julia E. Richards; Paul A. Sieving
Investigative Ophthalmology & Visual Science | 1996
Hemant Pawar; Eve L. Bingham; Kelaginamane T. Hiriyanna; Meridee Segal; Julia E. Richards; Paul A. Sieving
Human Heredity | 1996
C.E. Jaquish; John Blangero; S.M. Haffner; M.P. Stern; J.W. Maccluer; Michał Witt; André Reis; Wojciech Cichy; Katarzyna Dziechciowska; Shili Lin; Terence P. Speed; D. Castro de Guerra; H. Arvelo; A. Rodríguez Larralde; Francisco M. Salzano; Hemant Pawar; Eve L. Bingham; Kelaginamane T. Hiriyanna; Meridee Segal; Julia E. Richards; Paul A. Sieving; Majid Ghahremani; Chi-Bew Chart; Tzvy Bistritzer; Mordechai Aladjem; Martin Tieder; Wolfram Henn; C. Altay; A. Gürgey; Chung Choo Lee
Human Heredity | 1996
C.E. Jaquish; John Blangero; S.M. Haffner; M.P. Stern; J.W. Maccluer; Michał Witt; André Reis; Wojciech Cichy; Katarzyna Dziechciowska; Shili Lin; Terence P. Speed; D. Castro de Guerra; H. Arvelo; A. Rodríguez Larralde; Francisco M. Salzano; Hemant Pawar; Eve L. Bingham; Kelaginamane T. Hiriyanna; Meridee Segal; Julia E. Richards; Paul A. Sieving; Majid Ghahremani; Chi-Bew Chart; Tzvy Bistritzer; Mordechai Aladjem; Martin Tieder; Wolfram Henn; C. Altay; A. Gürgey; Chung Choo Lee