Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Moumita Chaki

Showing results (31-40 of 42) with videos related to

Pageof 5
Sort By:
Journal of the American Society of Nephrology : JASN|March 11, 2014
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRDEkim Z Taskiran, Emine Korkmaz, Safak Gucer, et al.
Journal of Medical Genetics|November 12, 2010
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto, Gokul Ramaswami, Sabine Janssen, et al.
American Journal of Physiology. Renal Physiology|February 19, 2016
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 productionJili Zhu, Moumita Chaki, Dongmei Lu, et al.
Nature Genetics|July 10, 2012
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repairWeibin Zhou, Edgar A Otto, Andrew Cluckey, et al.
Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.
American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.
American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.
The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
Journal of the American Society of Nephrology : JASN|March 11, 2014
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRDEkim Z Taskiran, Emine Korkmaz, Safak Gucer, et al.
Journal of Medical Genetics|November 12, 2010
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto, Gokul Ramaswami, Sabine Janssen, et al.
American Journal of Physiology. Renal Physiology|February 19, 2016
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 productionJili Zhu, Moumita Chaki, Dongmei Lu, et al.
Nature Genetics|July 10, 2012
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repairWeibin Zhou, Edgar A Otto, Andrew Cluckey, et al.
Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.
American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.
American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.
The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
Pageof 5