Volume 26; Issue 9

Main
Human Molecular Genetics
Volume 26; Issue 9

Human Molecular Genetics

Volume 26; Issue 9

1

MERTK rs4374383 variant predicts incident nonalcoholic fatty liver disease and diabetes: role of mononuclear cell activation and adipokine response to dietary fat

Musso, Giovanni, Cassader, Maurizio, De Michieli, Franco, Paschetta, Elena, Pinach, Silvia, Saba, Francesca, Bongiovanni, Daria, Framarin, Luciana, Berrutti, Mara, Leone, Nicola, Corvisieri, Stefania,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 492 KB

english, 2017

2

Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

Segal-Salto, Michal, Hansson, Karin, Sapir, Tamar, Kaplan, Anna, Levy, Talia, Schweizer, Michaela, Frotscher, Michael, James, Peter, Reiner, Orly

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.70 MB

english, 2017

3

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

Rouzier, Cécile, Moore, David, Delorme, Cécile, Lacas-Gervais, Sandra, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Burté, Florence, Serre, Valérie, Bannwarth, Sylvie, Chaussenot, Annabelle, Catala, M

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

4

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

Rouzier, Cécile, Moore, David, Delorme, Cécile, Lacas-Gervais, Sandra, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Burté, Florence, Serre, Valérie, Bannwarth, Sylvie, Chaussenot, Annabelle, Catala, M

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

5

MERTK rs4374383 variant predicts incident nonalcoholic fatty liver disease and diabetes: role of mononuclear cell activation and adipokine response to dietary fat

Musso, Giovanni, Cassader, Maurizio, De Michieli, Franco, Paschetta, Elena, Pinach, Silvia, Saba, Francesca, Bongiovanni, Daria, Framarin, Luciana, Berrutti, Mara, Leone, Nicola, Corvisieri, Stefania,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017