Results 31 to 40 of about 1,000 (164)

Efficacy mechanisms research progress of the active components in the characteristic woody edible oils

Food Frontiers, Volume 4, Issue 4, Page 1578-1605, December 2023., 2023
As six novel woody crops, Paeonia suffruticosa, Plukenetia volubilis, Acer truncatum, Olea europaea, Camellia sinensis, and Camellia oleifera are characterized by high oil production, widespread cultivation, adaptability, low cost, and various active ingredients.
Lili Xu, Wei Wang, Kaiwen Bai, Yi Wu, Yilin Ling, Xiaoyue Kong, Romero Agusti, Qianhui Qi, Zhaisheng Zheng, Ming'an Yuan, Le Chen, Lianliang Liu, Peifang Weng, Yu Zhang   +13 more
wiley   +1 more source

mTOR signaling in renal ion transport

Acta Physiologica, Volume 238, Issue 1, May 2023., 2023
Abstract The mammalian target of rapamycin (mTOR) signaling pathway is crucial in maintaining cell growth and metabolism. The mTOR protein kinase constitutes the catalytic subunit of two multimeric protein complexes called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
Anastasia Adella, Jeroen H. F. de Baaij
wiley   +1 more source

Newborn Screening: Review of its Impact for Cystinosis

Cells, 2022
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu   +5 more
doaj   +1 more source

Executive Function in Nephropathic Cystinosis [PDF]

Cognitive and Behavioral Neurology, 2013
We studied executive function (EF) in children and adolescents with cystinosis.Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities.
Angela O, Ballantyne, Amy M, Spilkin, Doris A, Trauner   +2 more
openaire   +2 more sources

Crystalline keratopathy in nephropathic cystinosis. [PDF]

Sudan J Paediatr, 2019
A 3-year-old male child presented with complaints of poor weight gain, delayed motor milestones since 1 year of age and features suggestive of rickets (wrist widening, bowing of legs and Harrison’s sulcus). He was third born of a third degree consanguineous marriage, had polyuria, with investigations revealing proximal renal tubular acidosis and ...
Priyanka, Bhatt GC, Kumar A, Takkar B.
europepmc   +4 more sources

Skeletal Consequences of Nephropathic Cystinosis [PDF]

Journal of Bone and Mineral Research, 2018
ABSTRACT   Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders
Florenzano Valdés, Pablo Felipe, Ferreira, Carlos, Nesterova, Galina, Roberts, Mary Scott, Harsha Tella, Sri, Fernández de Castro, Luis, Brown, Sydney M., Whitaker, Adom, Pereira, Renata C., Bulas, Dorothy, Gafni, Rachel I., Salusky, Isidro B., Gahl, William A., Collins, Michael T.   +13 more
openaire   +3 more sources

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +1 more source

Improvement in the Renal Prognosis in Nephropathic Cystinosis [PDF]

Clinical Journal of the American Society of Nephrology, 2011
BACKGROUND AND OBJECTIVES: Nephropathic cystinosis (NC) is an autosomal recessive disorder occurring in one to two per 100,000 newborns. Because of the rarity of NC, long-term outcome data are scarce. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: 245 NC patients from 18 countries provided data to the ESPN/ERA-EDTA registry.
Van Stralen, K J, Emma, F, Jager, K J, Verrina, E, Schaefer, F, Laube, G F, Lewis, M A, Levtchenko, E N   +7 more
openaire   +2 more sources

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Ophthalmology and Therapy, 2018
Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
Susmito Biswas, Martha Gaviria, Luísa Malheiro, João Pedro Marques, Vincenzo Giordano, Hong Liang   +5 more
doaj   +1 more source