Results 151 to 160 of about 8,657 (242)

Análisis de los polimorfismos p. K832R y p. T991T en pacientes cubanos con diagnóstico clínico de la enfermedad de Wilson

Revista Habanera de Ciencias Médicas
Introducción: La Enfermedad de Wilson se caracteriza por la acumulación de cobre en hígado, cerebro, riñones y cornea. Se transmite con un patrón de herencia autosómico recesivo. La causa molecular que la provoca son las mutaciones en el gen ATP7B.
Yulia Clark Feoktistova, Caridad Ruenes Domech, Elsa F. García Bacallao, Hilda Roblejo Balbuena, Zoe Robaina Jiménez, Estela Morales Peralta   +5 more
doaj  

Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing. [PDF]

Diagnostics (Basel)
Akbulut S, Is S, Koprulu TK, Varol FI, Kucukakcali Z, Colak C, Koc A, Tekin S, Yilmaz S.   +8 more
europepmc   +1 more source

Genetic, metabolic and cellular factors influencing intracellular localization of the Wilson disease protein, ATP7B [PDF]

, 2014
Arnab Gupta, Ashima Bhattacharjee, Nesrin M. Hasan, Lita Braiterman, Svetlana Lutsenko, Ann L. Hubbard   +5 more
openalex   +1 more source

Unprecedented coexistence of Dent's disease type 1 and Wilson's disease in a two-year-old Chinese boy: implications for precision medicine. [PDF]

BMC Nephrol
Mao Q, Cheung WW, Che R, Zhao F, Cheng X, Ding G.   +5 more
europepmc   +1 more source

Expression, Purification, and Metal Binding Properties of the N-terminal Domain from the Wilson Disease Putative Copper-transporting ATPase (ATP7B)

, 1997
Michael DiDonato, Suree Narindrasorasak, John Forbes, Diane W. Cox, Bibudhendra Sarkar   +4 more
openalex   +1 more source

The role of copper dysregulation in Wilson disease: an expert opinion. [PDF]

Front Med (Lausanne)
Stremmel W, Weiskirchen R.
europepmc   +1 more source

TRIM14 Regulation of Copper Homeostasis and Cuproptosis: A New Strategy to Overcome Chemoresistance in Glioblastoma. [PDF]

Biomedicines
Wang J, Zhang E, Chen S, Wang H, Huang Y, Lan W.   +5 more
europepmc   +1 more source

Mutational analysis of ATP7B in Chinese Wilson disease patients.

, 2016
Rui Hua, Fang Hua, Yonggeng Jiao, Yu Pan, Xu Yang, Peng Shan-shan, Junqi Niu   +6 more
openalex   +1 more source

NON-REDUNDANT ROLES OF COPPER TRANSPORTERS ATP7A AND ATP7B IN NORADRENERGIC SIGNALING [PDF]

Shubhrajit Roy, Yu Wang, Susan Aja, Niharika Sinha, Andrew M. Crawford, Keith MacRenaris, Alexa Wade, Kyungdo Kim, Abigael Muchenditsi, Lauryn Torres-Hernandez, Chan-Hyun Na, Anastasia Kralli, Michael Petris, Anna J. Taylor, Thomas V. O'Halloran, Cay Tressler, Kristine Glunde, Svetlana Lutsenko   +17 more
openalex   +1 more source

Copper-Induced Cell Death in Renal Diseases: Molecular Mechanisms and Therapeutic Implications. [PDF]

Drug Des Devel Ther
Lv D, Yu Y.
europepmc   +1 more source