Results 161 to 170 of about 2,256,617 (260)

Enhanced Adenosine Triphosphate Release From the Urothelium of Patients With Painful Bladder Syndrome:A Possible Pathophysiological Explanation [PDF]

, 2007
Chapple, Christopher R., Chess-Williams, Russell, Kumar, Vivek, Surprenant, Ann Marie   +3 more
core   +1 more source

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

, 2006
Kyu‐Seon Oh, Sikandar G. Khan, N.G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan R. Lehmann, Peter S. Friedmann, Steffen Emmert, Alexei Gratchev, Katherine Lachlan, Anneke Lucassan, Carl C. Baker, Kenneth H. Kraemer   +12 more
openalex   +2 more sources

Pioglitazone Improves Fat Tissue Distribution and Hyperglycemia in a Case of Cockayne Syndrome With Diabetes [PDF]

, 2015
Aiko Hayashi, Minoru Takemoto, Mayumi Shoji, Akiko Hattori, Katsuo Sugita, Koutaro Yokote   +5 more
openalex   +1 more source

Characterisation of a novel missense mutation in the <i>ERCC5</i> gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap. [PDF]

BMJ Case Rep, 2023
Stehnach WC, Cantor A, Bongiorno M.
europepmc   +1 more source

Clearance of DNA damage-arrested RNAPII is selectively impaired in Cockayne syndrome cells

bioRxiv
Paula J. van der Meer, George Yakoub, Y. Nakazawa, T. Ogi, M. S. Luijsterburg   +4 more
semanticscholar   +1 more source

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function

, 2020
Thierry Nouspikel, P. Lalle, S. A. Leadon, P. K. Cooper, S. G. Clarkson   +4 more
openalex   +1 more source

Cockayne syndrome mutation in XPG activate the integrated stress response. [PDF]

Hum Genet
Zhang D, Hartmann M, Cao Z, Zhu G, Najjar G, Günes C, Emmert S, Scharffetter-Kochanek K, Iben S.   +8 more
europepmc   +1 more source

Case report: neuroimaging in Cockayne syndrome. [PDF]

Radiol Case Rep
Mittal S, Jain KK, Arora S, Jajodia N.
europepmc   +1 more source

Cockayne's syndrome.

Indian journal of dermatology, venereology and leprology, 2012
A 10-year old boy, a product of consanguineous marriage was diagnosed clinically as a case of Cockayne's syndrome because of delayed milestones, deaf mutism with spastic paraplegia, dwarfism, salt and pepper fundus, typical facies and a photosensitive rash on the butterfly area of the face.
openaire   +1 more source

Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells [PDF]

, 1999
A.S. Balajee, Irina I. Dianova, Vilhelm A. Bohr   +2 more
openalex   +1 more source