E-LIB Suche - Ergebnisse für: Simons, Matias

1

De Novo Variants in RAB11B Cause Various Degrees of Global ..:

Ahmad, Natalie ; Fazeli, Walid ; Schließke, Sophia...
Pediatric Neurology. 148 (2023) - p. 164-171 , 2023

Link: https://doi.org/10.1016/..

2

Publisher Correction: Drosophila melanogaster: a simple gen..:

Dow, Julian A. T. ; Simons, Matias ; Romero, Michael F.
Nature Reviews Nephrology. 20 (2023) 1 - p. 70-70 , 2023

Link: https://doi.org/10.1038/..

3

Four missense genetic variants in CUBN are associated with ..:

Uglebjerg, Nicoline ; Ahmadizar, Fariba ; Aly, Dina M....
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Lysosomal cystine mobilization shapes the response of TORC1..:

Jouandin, Patrick ; Marelja, Zvonimir ; Shih, Yung-Hsin...
Science. 375 (2022) 6582 - p. , 2022

Link: https://doi.org/10.1126/..

5

Drosophila melanogaster: a simple genetic model of kidney s..:

Dow, Julian A. T. ; Simons, Matias ; Romero, Michael F.
Nature Reviews Nephrology. 18 (2022) 7 - p. 417-434 , 2022

Link: https://doi.org/10.1038/..

6

Reducing lipid bilayer stress by monounsaturated fatty acid..:

Pérez-Martí, Albert ; Ramakrishnan, Suresh ; Li, Jiayi...
eLife. 11 (2022) - p. , 2022

Link: https://doi.org/10.7554/..

7

Model organisms for functional validation in genetic renal ..:

Boettcher, Susanne ; Simons, Matias
Medizinische Genetik. 34 (2022) 4 - p. 287-296 , 2022

Link: https://doi.org/10.1515/..

8

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Con..:

Cannata Serio, Magda ; Graham, Laurie A. ; Ashikov, Angel...
Hepatology. 72 (2020) 6 - p. 1968-1986 , 2020

Link: https://doi.org/10.1002/..

9

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndro..:

Marchesin, Valentina ; Pérez-Martí, Albert ; Le Meur, Gwenn...
Cell Reports. 29 (2019) 13 - p. 4407-4421.e5 , 2019

Link: https://doi.org/10.1016/..

10

A homozygous KAT2B variant modulates the clinical phenotype..:

Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara...
PLOS Genetics. 14 (2018) 5 - p. e1007386 , 2018

Link: https://doi.org/10.1371/..

11

Correction: A homozygous KAT2B variant modulates the clinic..:

Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara...
PLOS Genetics. 14 (2018) 10 - p. e1007748 , 2018

Link: https://doi.org/10.1371/..

12

Mutations in ATP6AP2 cause autophagic liver disease in huma..:

Cannata Serio, Magda ; Rujano, Maria A. ; Simons, Matias
Autophagy. , 2018

Link: https://doi.org/10.1080/..

13

Vacuolar ATPase is required for ERK‐dependent wound healing..:

Fraire‐Zamora, Juan J. ; Simons, Matias
Wound Repair and Regeneration. 26 (2018) 1 - p. 102-107 , 2018

Link: https://doi.org/10.1111/..

14

A novel rare CUBN variant and three additional genes identi..:

Ahluwalia, Tarunveer S. ; Schulz, Christina-Alexandra ; Waage, Johannes...
Diabetologia. 62 (2018) 2 - p. 292-305 , 2018

Link: https://doi.org/10.1007/..

15

Mutations in the X-linked ATP6AP2 cause a glycosylation dis..:

Rujano, Maria A. ; Cannata Serio, Magda ; Panasyuk, Ganna...
Journal of Experimental Medicine. 214 (2017) 12 - p. 3707-3729 , 2017

Link: https://doi.org/10.1084/..