Results 171 to 180 of about 8,657 (242)

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

, 2016
Yi Dong, Ni Wang, Wan‐Jin Chen, Bo Wan, Gui‐Xian Zhao, Zhuqing Shi, Yue Zhang, Ning Wang, Long Yu, Jianfeng Xu, Zhi‐Ying Wu   +10 more
openalex   +1 more source

Screening strategy to identify Cas9 variants with higher HDR activity based on diphtheria toxin. [PDF]

J Biomed Sci
Matsumoto D, Kubota K, Sato Y, Kato-Inui T, Nigorikawa K, Miyaoka Y, Nomura W.   +6 more
europepmc   +1 more source

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities. [PDF]

Hum Mutat
Calvo JS, Heger T, Kabin E, Mowrey WR, Del Angel G, Ding W, Lutsenko S.   +6 more
europepmc   +1 more source

Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics. [PDF]

Orphanet J Rare Dis
Guan X, Sun Y, Wang Y, Li Y, Zhang Z, Hong D, Yang P, Liang X, Wang X, Yu B.   +9 more
europepmc   +1 more source

Differential Expression of ATP7A, ATP7B and CTR1 in Adult Rat Dorsal Root Ganglion Tissue

, 2010
Virginia Ip, Jianzhong Liu, Julian F. B. Mercer, Mark J. McKeage   +3 more
openalex   +1 more source

AI-enhanced genomic interpretation in Wilson's disease: a step toward earlier detection. [PDF]

Ann Med Surg (Lond)
Aminpoor H, Khizar M, Zaib M, Karimi H, Khan M.   +4 more
europepmc   +1 more source

Vitisin A inhibits liver fibrosis by promoting Nrf2/HO-1 pathway and inhibiting Cuproptosis. [PDF]

Sci Rep
Ding S, Hu D, Pan Y, Wang J, Wang L.
europepmc   +1 more source

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Andreescu N, Caba L, Popoiu TA, Mozos I, Gug C.   +5 more
europepmc   +1 more source

POS0579 THE IMPACT OF ATP7B GENE MUTATIONS ON JOINT MANIFESTATIONS IN WILSON'S DISEASE

O. Šléglová, J Gatterová
openalex   +1 more source

Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson's disease pedigrees. [PDF]

Front Genet
Zhang Q, Xie X, Li H, Li Y, Huang H.
europepmc   +1 more source