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Showing 1–5 of 5 results

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Long-term results and complications after trabeculectomy with a single per-operative application of 5-fluorouracil

R W D Bell
N E Habib
C O'Brien
Research01 Sept 1997
Eye

Volume: 11, P: 663-671
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

Christopher Schroeder
Ulrike Faust
Ines B. Brecht
ResearchOpen Access28 Jul 2023
European Journal of Human Genetics

Volume: 31, P: 1139-1146
Regulation of endoplasmic reticulum turnover by selective autophagy

The protein FAM134B is an endoplasmic reticulum (ER)-resident receptor that facilitates ER autophagy, and downregulation of this protein (mutations of which are also known to cause sensory neuropathy in humans) results in expanded ER structures and degeneration of mouse sensory neurons.

Aliaksandr Khaminets
Theresa Heinrich
Ivan Dikic
Research03 Jun 2015
Nature

Volume: 522, P: 354-358
Genomes in clinical care

Olaf Riess
Marc Sturm
Tobias Haack
ReviewsOpen Access14 Mar 2024
npj Genomic Medicine

Volume: 9, P: 1-10
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Tin Aung, Chiea-Chuen Khor and colleagues report the results of a genome-wide association study of exfoliation syndrome. They replicate a known association at LOXL1 and identify a previously unreported association at CACNA1A.

Tin Aung
Mineo Ozaki
Chiea-Chuen Khor
Research23 Feb 2015
Nature Genetics

Volume: 47, P: 387-392