User profiles for Martin H. Fabry
Martin Heinrich FabryUniversity of Cambridge Verified email at cam.ac.uk Cited by 548 |
piRNA-guided genome defense: from biogenesis to silencing
…, F Ciabrelli, EL Eastwood, MH Fabry… - Annual review of …, 2018 - annualreviews.org
PIWI-interacting RNAs (piRNAs) and their associated PIWI clade Argonaute proteins constitute
the core of the piRNA pathway. In gonadal cells, this conserved pathway is crucial for …
the core of the piRNA pathway. In gonadal cells, this conserved pathway is crucial for …
piRNA-guided co-transcriptional silencing coopts nuclear export factors
10.7554/eLife.47999.001 The PIWI-interacting RNA (piRNA) pathway is a small RNA-based
immune system that controls the expression of transposons and maintains genome integrity …
immune system that controls the expression of transposons and maintains genome integrity …
Maternally inherited piRNAs direct transient heterochromatin formation at active transposons during early Drosophila embryogenesis
The PIWI-interacting RNA (piRNA) pathway controls transposon expression in animal germ
cells, thereby ensuring genome stability over generations. In Drosophila, piRNAs are …
cells, thereby ensuring genome stability over generations. In Drosophila, piRNAs are …
[PDF][PDF] Systemic mRNA therapy for the treatment of Fabry disease: preclinical studies in wild-type mice, Fabry mouse model, and wild-type non-human primates
X Zhu, L Yin, M Theisen, J Zhuo, S Siddiqui… - The American Journal of …, 2019 - cell.com
… of Fabry disease.It is markedly elevated in both classic male and symptomatic female
Fabry-… Individuals with Fabry disease present clinically with a spectrum of disease severity that …
Fabry-… Individuals with Fabry disease present clinically with a spectrum of disease severity that …
Fabry disease
R Schiffmann - Pharmacology & therapeutics, 2009 - Elsevier
… The dermatologists Johannes Fabry and William Anderson first described ‘angiokeratoma …
One might speculate that having the Fabry trait presents a selective advantage such as …
One might speculate that having the Fabry trait presents a selective advantage such as …
Fabry disease
R Schiffmann - Handbook of clinical neurology, 2015 - Elsevier
… Increased urinary sediment Gb 3 measured in 24 h collection was thought to be useful in
diagnosing Fabry disease, particularly in females who almost always have elevated levels (…
diagnosing Fabry disease, particularly in females who almost always have elevated levels (…
Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease
DP Germain, S Waldek, M Banikazemi… - Journal of the …, 2007 - journals.lww.com
… Fabry disease, an inherited deficiency of the lysosomal … 58 patients who had classic Fabry
disease and completed a 20-… Fabry disease is an X-linked lysosomal storage disorder that is …
disease and completed a 20-… Fabry disease is an X-linked lysosomal storage disorder that is …
The changing landscape of Fabry disease
E Svarstad, HP Marti - Clinical journal of the american society of …, 2020 - journals.lww.com
Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA
gene causing complete or partial deficiency of the enzyme a-galactosidase A (a-Gal A), and …
gene causing complete or partial deficiency of the enzyme a-galactosidase A (a-Gal A), and …
Characterization of classical and nonclassical Fabry disease: a multicenter study
… men with nonclassical Fabry disease or … Fabry disease had a history of more events than
men with nonclassical disease or women with either phenotype; women with classical Fabry …
men with nonclassical disease or women with either phenotype; women with classical Fabry …
The paradox of hemoglobin SC disease
RL Nagel, ME Fabry, MH Steinberg - Blood reviews, 2003 - Elsevier
Homozygous HbC gene results only in mild hemolytic anemia. In HbSC disease red cells
contain equal levels of HbS and HbC. It is a paradox that HbSC exhibit a moderately severe …
contain equal levels of HbS and HbC. It is a paradox that HbSC exhibit a moderately severe …