Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Gad D. Vatine"'
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 16092 (2022)
Pleckstrin Homology And RUN Domain Containing M2 (PLEKHM2) [delAG] mutation causes dilated cardiomyopathy with left ventricular non-compaction (DCM-LVNC), resulting in a premature death of PLEKHM2[delAG] individuals due to heart failure. PLEKHM2 is a
Externí odkaz:
https://doaj.org/article/f674da6260d847febf80143dd77ba702
Publikováno v:
Stem Cell Research, Vol 55, Iss , Pp 102495- (2021)
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator com
Externí odkaz:
https://doaj.org/article/dff6064231d042ae9cf5291dd27dfd74
Autor:
Tatiana Rabinski, Sivan T. Sagiv, Moran Hausman-Kedem, Aviva Fattal-Valevski, Moran Rubinstein, Karen B. Avraham, Gad D. Vatine
Publikováno v:
Stem Cell Research, Vol 51, Iss , Pp 102178- (2021)
The GLUN2D subunit of the N-methyl D-aspartate receptor (NMDAR) is encoded by the GRIN2D gene. Mutations in GRIN2D have been associated with neurodevelopmental and epileptic encephalopathies. Access to patient samples harboring mutations in GRIN2D ca
Externí odkaz:
https://doaj.org/article/b00e5177f9e94e9289de865421dd8079
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101975- (2020)
p450 oxidoreductase (POR) cytochromes are enzymes involved in the metabolism of steroids and sex hormones, in which POR acts as an electron donor. Inactivating mutations in the POR gene cause diverse deficiencies. Access to patient samples carrying t
Externí odkaz:
https://doaj.org/article/26aa927b394e41b9a65c4f4d0c103863
Autor:
Daniel Falik, Tatiana Rabinski, Dor Zlotnik, Reut Eshel, Meshi Zorsky, Tali Garin-Shkolnik, Rivka Ofir, Avital Adato, Avraham Ashkenazi, Gad D. Vatine
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101955- (2020)
Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening condition affecting the autonomic nervous system that usually presents shortly after birth as hypoventilation or central apnea during sleep. In the majority of cases, heter
Externí odkaz:
https://doaj.org/article/4b450cf89edf4fbab7be77932ad864f7
Autor:
Ryan G. Lim, Chris Quan, Andrea M. Reyes-Ortiz, Sarah E. Lutz, Amanda J. Kedaigle, Theresa A. Gipson, Jie Wu, Gad D. Vatine, Jennifer Stocksdale, Malcolm S. Casale, Clive N. Svendsen, Ernest Fraenkel, David E. Housman, Dritan Agalliu, Leslie M. Thompson
Publikováno v:
Cell Reports, Vol 19, Iss 7, Pp 1365-1377 (2017)
Brain microvascular endothelial cells (BMECs) are an essential component of the blood-brain barrier (BBB) that shields the brain against toxins and immune cells. While BBB dysfunction exists in neurological disorders, including Huntington’s disease
Externí odkaz:
https://doaj.org/article/a4c8006ac0ea461986232304206450ef
Autor:
Xiao-Hui Liao, Pablo Avalos, Oksana Shelest, Raz Ofan, Michael Shilo, Catherine Bresee, Shibi Likhite, Jean-Philippe Vit, Heike Heuer, Brian Kaspar, Kathrin Meyer, Alexandra M. Dumitrescu, Samuel Refetoff, Clive N. Svendsen, Gad D. Vatine
Publikováno v:
Thyroid
BACKGROUND: Allan-Herndon-Dudley syndrome (AHDS) is a severe psychomotor disability disorder that also manifests characteristic abnormal thyroid hormone (TH) levels. AHDS is caused by inactivating mutations in monocarboxylate transporter 8 (MCT8), a
Publikováno v:
Thyroid. 32:860-870
Autor:
Fatima Amer-Sarsour, Daniel Falik, Yevgeny Berdichevsky, Alina Kordonsky, Gali Prag, Gad D Vatine, Avraham Ashkenazi
Expansion mutations in polyalanine stretches are now associated with a growing number of human diseases with common genotypes and similar phenotypes 1–6. These similarities prompted us to query the normal function of physiological polyalanine stret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de6a2e569309c6e3fad93f52eca24705
https://doi.org/10.1101/2022.06.20.496786
https://doi.org/10.1101/2022.06.20.496786
Autor:
Adva Hadar, Aliza Avitan, Maram Ganaiem, Shlomo Sragovich, Oxana Kapitansky, Gad D. Vatine, Eliezer Giladi, David Gurwitz, Yanina Ivashko-Pachima, Adva Yeheskel, Illana Gozes, Alexandra Lobyntseva
Publikováno v:
Molecular Psychiatry. 26:6550-6561
Activity-dependent neuroprotective protein (ADNP) is essential for brain formation and function. As such, de novo mutations in ADNP lead to the autistic ADNP syndrome and somatic ADNP mutations may drive Alzheimer's disease (AD) tauopathy. Sirtuin 1