Results 101 to 110 of about 2,523,567 (168)

Characterization of the Ctns^Y226X/Y226X mouse model.

, 2019
A. Schematic diagram of Ctns transcript showing the Ctns Y226X nonsense mutation in exon 8. B. Half-cystine levels in 9-month old CtnsY226X/Y226X mouse kidneys was elevated compared to wildtype. C. Ctns transcript level (RT-qPCR) in CtnsY226X/Y226X mouse
Pedro Huertas (4891903), Emma J. Brasell (8081969), Lee Lee Chu (8081972), Yojiro Yamanaka (7589195), Iris Alroy (8081981), Paul Goodyer (311966), Brian M. Gilfix (8081987), Murielle M. Akpa (8081975), Idit Eshkar-Oren (8081978), Rachel Corsini (8081984)   +9 more
core   +1 more source

Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review

Clinical Ophthalmology, 2018
Achini K Makuloluwa, Fatemeh Shams Tennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK Abstract: Cystinosis is a rare, autosomal recessive disorder leading to defective transport of cystine out of lysosomes.
Makuloluwa AK, Shams F
doaj  

Cystinosis induced by <i>CTNS</i> gene mutation: a rare disease study. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2021
Wang X, Zhang BL, Chen XY, Guo Z.
europepmc   +1 more source

From Cysteamine to Pepstatin A: Targeting Cathepsin D To Improve Bone Health in Cystinosis. [PDF]

Int J Biol Sci
Battafarano G, Rossi M, Pagliarosi O, Di Giuseppe L, Di Gregorio J, Terreri S, De Stefanis C, Pezzullo M, Di Giovamberardino G, Vernocchi P, Marzano V, Putignani L, D'Amico J, Piemonte F, Taranta A, Emma F, Del Fattore A.   +16 more
europepmc   +1 more source

Hematopoietic Stem-Cell Gene Therapy for Cystinosis. [PDF]

N Engl J Med
Barshop BA, Ball ED, Benador N, Trauner D, Phillips S, Dohil R, Afshari NA, Roy S, Campo Fernandes B, Kohn D, Shayan K, Everett JK, Bushman FD, Midgley J, Liang H, Sawyers A, Gangoiti JA, Panchal M, Ahmed I, Cherqui S.   +19 more
europepmc   +1 more source

Gene Allen Oral History (part 1)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

Gene Allen Oral History (part 2)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

A zebrafish luminescent biosensor for kidney tubulopathy, metal toxicity and drug screening. [PDF]

Dis Model Mech
Lai H, Goldade M, Keller SA, Worms I, Luciani A, Neuhauss SCF, Slaveykova VI, Devuyst O, Chen Z.   +8 more
europepmc   +1 more source

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. [PDF]

J Cachexia Sarcopenia Muscle
Medaer L, Mora R, Zhou Z, Giarratana N, Yedigaryan L, La Rovere R, Levtchenko E, Mouly V, Verhoeyen E, Eeltink S, Treumann A, Vervliet T, Sampaolesi M, Gijsbers R.   +13 more
europepmc   +1 more source

Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India. [PDF]

Child Kidney Dis
K P L, Rahman RK, Remesh P, Anand M, Jayadevan N, Pachat D.   +5 more
europepmc   +1 more source