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Dive into the research topics where Kelaginamane T. Hiriyanna is active.

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Featured researches published by Kelaginamane T. Hiriyanna.


Human Mutation | 1999

NOVEL MUTATIONS IN XLRS1 CAUSING RETINOSCHISIS, INCLUDING FIRST EVIDENCE OF PUTATIVE LEADER SEQUENCE CHANGE

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

X-linked juvenile retinoschisis: Localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC

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

Searching for Genotype-Phenotype Correlations in X-Linked Juvenile Retinoschisis

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

Phenotypic Expression of Juvenile X-linked Retinoschisis in Swedish Families With Different Mutations in the XLRS1 Gene

Louise Eksandh; Vesna Ponjavic; Radha Ayyagari; Eve L. Bingham; Kelaginamane T. Hiriyanna; Sten Andréasson; Berndt Ehinger; Paul A. Sieving


American Journal of Ophthalmology | 1999

Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave

Paul A. Sieving; Eve L. Bingham; Jennifer Kemp; Julia E. Richards; Kelaginamane T. Hiriyanna


Journal of Neurophysiology | 2005

Primate retinal signaling pathways: Suppressing on-pathway activity in monkey with glutamate analogues mimics human CSNB1-NYX genetic night blindness

Naheed W. Khan; Mineo Kondo; Kelaginamane T. Hiriyanna; Jeffrey A. Jamison; Ronald A. Bush; Paul A. Sieving


Investigative Ophthalmology & Visual Science | 1996

X-linked retinoschisis: Cloning of genomic DNA and isolation of transcribed sequences from the Xp22.1-22.2 region

Kelaginamane T. Hiriyanna; Hemant Pawar; Eve L. Bingham; Julia E. Richards; Paul A. Sieving


Investigative Ophthalmology & Visual Science | 1996

Refined mapping of X-linked fetinoschisis to a 900-1000Kb region between (DXS1195,DXS418) and AFM291wf5

Hemant Pawar; Eve L. Bingham; Kelaginamane T. Hiriyanna; Meridee Segal; Julia E. Richards; Paul A. Sieving


Human Heredity | 1996

Subject Index Vol. 46, 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

Contents, Vol. 46, 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

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Paul A. Sieving

National Institutes of Health

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Shili Lin

University of California

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André Reis

University of Erlangen-Nuremberg

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John Blangero

University of Regensburg

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