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

Matthias T F Wolf

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

Pageof 5
Sort By:
The Journal of Biological Chemistry|August 25, 2018
Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)Mingzhu Nie, Manjot S Bal, Jie Liu, et al.
American Journal of Human Genetics|September 3, 2002
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionEdgar Otto, Julia Hoefele, Rainer Ruf, et al.
Journal of the American Society of Nephrology : JASN|May 23, 2003
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2Rainer G Ruf, Matthias T F Wolf, Hans C Hennies, et al.
Kidney International|October 9, 2003
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domainsMatthias T F Wolf, Bettina E Mucha, Massimo Attanasio, et al.
Scientific Reports|March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutationsAndrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 3, 2005
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkageMatthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, et al.
Human Molecular Genetics|February 23, 2010
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionFrank Zaucke, Joana M Boehnlein, Sarah Steffens, et al.
Plos Genetics|January 24, 2009
A systematic approach to mapping recessive disease genes in individuals from outbred populationsFriedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, et al.
Nature Genetics|June 15, 2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Lekbir Baala, Rémi Salomon, et al.
Kidney International|August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesMartina Živná, Kendrah Kidd, Mohamad Zaidan, et al.
Pageof 5

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

Sort By:
Pageof 5
The Journal of Biological Chemistry|August 25, 2018
Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)Mingzhu Nie, Manjot S Bal, Jie Liu, et al.
American Journal of Human Genetics|September 3, 2002
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionEdgar Otto, Julia Hoefele, Rainer Ruf, et al.
Journal of the American Society of Nephrology : JASN|May 23, 2003
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2Rainer G Ruf, Matthias T F Wolf, Hans C Hennies, et al.
Kidney International|October 9, 2003
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domainsMatthias T F Wolf, Bettina E Mucha, Massimo Attanasio, et al.
Scientific Reports|March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutationsAndrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 3, 2005
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkageMatthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, et al.
Human Molecular Genetics|February 23, 2010
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionFrank Zaucke, Joana M Boehnlein, Sarah Steffens, et al.
Plos Genetics|January 24, 2009
A systematic approach to mapping recessive disease genes in individuals from outbred populationsFriedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, et al.
Nature Genetics|June 15, 2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Lekbir Baala, Rémi Salomon, et al.
Kidney International|August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesMartina Živná, Kendrah Kidd, Mohamad Zaidan, et al.
Pageof 5