Výsledky vyhledávání - "Avraham Shaag"

Akademický článek

Full genome viral sequences inform patterns of SARS-CoV-2 spread into and within Israel

Autor: Danielle Miller, Michael A. Martin, Noam Harel, Omer Tirosh, Talia Kustin, Moran Meir, Nadav Sorek, Shiraz Gefen-Halevi, Sharon Amit, Olesya Vorontsov, Avraham Shaag, Dana Wolf, Avi Peretz, Yonat Shemer-Avni, Diana Roif-Kaminsky, Naama M. Kopelman, Amit Huppert, Katia Koelle, Adi Stern

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-10 (2020)

In this study, Adi Stern and colleagues use full genome sequences of SARS-CoV-2 to look at the rate of infections in Israel. They report that social distancing had a significant effect on minimising the rate of transmission, and find evidence for tra

Externí odkaz: https://doaj.org/article/43041c0b541e488399344dc6b8f0e1d7

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Akademický článek

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Autor: Boris Fichtman, Fadia Zagairy, Nitzan Biran, Yiftah Barsheshet, Elena Chervinsky, Ziva Ben Neriah, Avraham Shaag, Michael Assa, Orly Elpeleg, Amnon Harel, Ronen Spiegel

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphol

Externí odkaz: https://doaj.org/article/7b3e738eaaa1487c9dd54b6c727f0181

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Akademický článek

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Publikováno v: PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)

The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome seque

Externí odkaz: https://doaj.org/article/5d530776325f402694439d56dd8f1977

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Akademický článek

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

Autor: Simon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage, Alexis Brice, Albert Taraboulos, Klaus H Kaestner, Lois E Greene, Orly Elpeleg

Publikováno v: PLoS ONE, Vol 7, Iss 5, p e36458 (2012)

Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying mole

Externí odkaz: https://doaj.org/article/11369111771e4f18895e288428eae10c

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Akademický článek

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach

Autor: Polina Stepensky, Michael Weintraub, Asaf Yanir, Shoshana Revel-Vilk, Frank Krux, Kirsten Huck, Rene M. Linka, Avraham Shaag, Orly Elpeleg, Arndt Borkhardt, Igor B. Resnick

Publikováno v: Haematologica, Vol 96, Iss 3 (2011)

Mutations in the IL-2-inducible T-cell kinase gene have recently been shown to cause an autosomal recessive fatal Epstein Barr virus (EBV) associated lymphoproliferation. We report 3 cases from a single family who presented with EBV-positive B-cell p

Externí odkaz: https://doaj.org/article/689d59f84de342328a9f0a03d3375baa

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A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

Autor: Orly Elpeleg, Moshe Dessau, Avraham Shaag, Ronen Spiegel, Yoav Zehavi, Haneen Jabaly-Habib, Ann Saada

Publikováno v: Metabolic Brain Disease. 36:581-588

Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7cf89feeaa8e1e6ce1de7fc3d00cb163
https://doi.org/10.1007/s11011-021-00671-1

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Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Autor: Michael Assa, Fadia Zagairy, Ronen Spiegel, Orly Elpeleg, Ziva Ben Neriah, Nitzan Biran, Amnon Harel, Boris Fichtman, Avraham Shaag, Elena Chervinsky, Yiftah Barsheshet

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature Communications

Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af6c4872854e888e8de4e827c0ab22a
http://link.springer.com/article/10.1038/s41467-019-08493-7

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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

Autor: Orly Elpeleg, Claudia M. Nicolae, Anna De Grassi, Jessica Bischetsrieder, Simon Edvardson, Giuseppe Punzi, Jennifer Burton, George Lucian Moldovan, Ciro Leonardo Pierri, Grace J. Noh, Avraham Shaag

Publikováno v: The American Journal of Human Genetics. 104:179-185

Accumulation of unfolded proteins in the endoplasmic reticulum (ER) initiates a stress response mechanism to clear out the unfolded proteins by either facilitating their re-folding or inducing their degradation. When this fails, an apoptotic cascade

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac9ae6a1ccb0bedc0595d1cff48d9eb
https://doi.org/10.1016/j.ajhg.2018.11.018

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