Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Tatiana Rabinski"'
Autor:
Yara Hussein, Utkarsh Tripathi, Ashwani Choudhary, Ritu Nayak, David Peles, Idan Rosh, Tatiana Rabinski, Jose Djamus, Gad David Vatine, Ronen Spiegel, Tali Garin-Shkolnik, Shani Stern
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of genetic variants were reported to be highly penetrant and causative of ASD.
Externí odkaz:
https://doaj.org/article/e5ef36397bbf431e8facf1bb8f22080c
Autor:
Nataly Korover, Sharon Etzion, Alexander Cherniak, Tatiana Rabinski, Aviva Levitas, Yoram Etzion, Rivka Ofir, Ruti Parvari, Smadar Cohen
Publikováno v:
Biological Research, Vol 56, Iss 1, Pp 1-19 (2023)
Abstract Dilated cardiomyopathy (DCM) is a primary myocardial disease, leading to heart failure and excessive risk of sudden cardiac death with rather poorly understood pathophysiology. In 2015, Parvari's group identified a recessive mutation in the
Externí odkaz:
https://doaj.org/article/c4eeee91aefa4ae79ba2bdb99f6de49d
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102899- (2022)
Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes global developmental disability, delayed or absent speech, and an autism spectrum disorder. The loss of function of one copy of SHANK3, which codes for a scaffolding protein found
Externí odkaz:
https://doaj.org/article/e923782c2c17421096cd25b811dd5e6d
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
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102382- (2021)
Autophagy serves as a master regulator of cellular homeostasis. Hence, expectedly autophagic dysfunction has been documented in many diseases such as cancer, neurodegeneration and cardiovascular disorders. A novel homozygous mutation in PLEKHM2 gene
Externí odkaz:
https://doaj.org/article/ce82933c59214db9be3a330bc658368b
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:
Hen Haddad, Sharon Etzion, Tatiana Rabinski, Rivka Ofir, Danielle Regev, Yoram Etzion, Jacob Gopas, Aviv Goldbart
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 21, p 11418 (2021)
Obstructive sleep apnea syndrome (OSAS) patients suffer from cardiovascular morbidity, which is the leading cause of death in this disease. Based on our previous work with transformed cell lines and primary rat cardiomyocytes, we determined that upon
Externí odkaz:
https://doaj.org/article/e025f904c06e4e74bc4c90392ffc6902