Results 61 to 70 of about 6,030 (184)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

JIMD Reports, 2020
Background Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs.
Fan Yi, Sheri A. Poskanzer, Candace T. Myers, Jenny Thies, Christopher J. Collins, Remwilyn Dayuha, Phi Duong, Roderick Houwen, Si Houn Hahn   +8 more
doaj   +1 more source

Ekspresi CTR1 dan ATP7B sebagai Prediktor Respons Kemoterapi Neoadjuvan Cisplatin pada Kanker Serviks IIB

Indonesian Journal of Cancer, 2015
The locally advanced cervical cancer is common in Indonesia and with limitation of radiation, chemotherapy is used as a neoadjuvant treatment. However the clear mechanism of accumulation chemotherapy in cervical cancer is still unclear.
PUTU AGUS SUARTA
doaj   +1 more source

Influence of Age and Exposure Pathway on Copper and Cadmium Mixture Toxicity: A Study on Daphnia magna

Environmental Toxicology, EarlyView.
ABSTRACT Metal contamination in aquatic ecosystems poses substantial risks to freshwater organisms, with mixture effects often deviating from predictions based on single‐metal toxicity. Understanding how age‐specific sensitivities and multiple exposure pathways influence mixture effects is critical for accurate risk assessment.
Sanah Majid, Karen Smeets, Mubiana K. Valentine, Ronny Blust   +3 more
wiley   +1 more source

ATP7B detoxifies silver in ciliated airway epithelial cells [PDF]

Toxicology and Applied Pharmacology, 2010
Silver is a centuries-old antibiotic agent currently used to treat infected burns. The sensitivity of a wide range of drug-resistant microorganisms to silver killing suggests that it may be useful for treating refractory lung infections. Toward this goal, we previously developed a methylated caffeine silver acetate compound, SCC1, that exhibits broad ...
Aida, Ibricevic, Steven L, Brody, Wiley J, Youngs, Carolyn L, Cannon   +3 more
openaire   +2 more sources

Polystyrene nanoplastics perturb trophoblastic copper homeostasis with reduced ATP7B expression

Ecotoxicology and Environmental Safety
Background: Polystyrene nanoplastics (PS-NPs) have been detected in human placental and chorionic villous tissues and have been increasingly linked to adverse pregnancy outcomes. However, whether PS-NPs disrupt copper homeostasis in trophoblast cells and
Shuangkai Xu, Zihan Wang, Anqi Zhao, Han Wang, Weiyi Qian, Qiushi Xia, Yuchen Liu, Lingji Gao, Xinyuan Zhao, Yufei Ni, Xiaofang Tan, Jun Yu   +11 more
doaj   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

Comprehensive and comparative exploration of the Atp7b−/− mouse plasma proteome [PDF]

Metallomics, 2019
Abstract Wilson's disease (WD), a rare genetic disease caused by mutations in the ATP7B gene, is associated with altered expression and/or function of the copper-transporting ATP7B protein, leading to massive toxic accumulation of copper in the liver and brain.
Maud Lacombe, Michel Jaquinod, Lucid Belmudes, Yohann Couté, Claire Ramus, Florence Combes, Thomas Burger, Elisabeth Mintz, Justine Barthelon, Vincent Leroy, Aurélia Poujois, Alain Lachaux, France Woimant, Virginie Brun   +13 more
openaire   +4 more sources

Liver Organoids: From Disease Modelling to Regenerative Medicine

Cell Proliferation, EarlyView.
Liver organoids provide a versatile platform for disease modelling and drug discovery, leveraging stem cells and engineering techniques. They bridge research and clinical applications, offering significant potential for advancing precision medicine and regenerative therapies for liver diseases.
Tiepeng Wang, Xiaotian Qu, Jinhong Si, Junkang Meng, Ting Zhang, Shuliang Niu   +5 more
wiley   +1 more source

Role of Atp7b Gene in Spontaneous and N‐Diethylnitrosamine‐induced Carcinogenesis in a New Congenic Strain, WKAH.C‐Atp7b Rats [PDF]

Japanese Journal of Cancer Research, 2001
To examine whether Long‐Evans Cinnamon (LEC) rats, a mutant rat model of Wilson's disease, have a susceptibility gene(s) to hepatocarcinogenesis in addition to the causative gene, Atp7b, we established a new congenic strain, WKAH.C‐Atp7b rats, in which the Atp7b gene of the LEG rats is inserted into the normal Wistar‐King Aptekman Hokkaido (WKAH ...
Minami, Takanori, Kaneda, Shinya, Otsuka, Toshihiro, Jiao, Zhongxian, Suzuki, Yasuo, Yamada, Takahisa, Matsumoto, Kozo, Izumi, Keisuke   +7 more
openaire   +2 more sources