Výsledky vyhledávání - "Yshaia Langer"

Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity

Autor: Alina Nemirovski, Malka Attar-Namdar, Yshaia Langer, Yankel Gabet, Joseph Tam, Raphael Mechoulam, Shira Hirsch, Reem Smoum, Asaad Gammal, Rivka Hadar, Yehuda Pollak, Saja Baraghithy, Megan E. Rech, Itai Bab, Adi Drori, Christian P. Schaaf, Varda Gross-Tsur

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 34(1)

Among a multitude of hormonal and metabolic complications, individuals with Prader-Willi syndrome (PWS) exhibit significant bone abnormalities, including decreased BMD, osteoporosis, and subsequent increased fracture risk. Here we show in mice that l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2f11f3823266fb863458a871e4806d
https://pubmed.ncbi.nlm.nih.gov/30347474

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A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

Autor: Ohad S. Birk, Michael Volodarsky, Yshaia Langer

Publikováno v: BMC Medical Genetics

Background Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1810a0ede6382ff6eb36c009ae6e3729
https://doi.org/10.1186/s12881-014-0110-9

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Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Autor: Rotem Kadir, Michael Volodarsky, Khalil Elbedour, Yshaia Langer, Daniella Landau, Ohad S. Birk, Idan Cohen, Yonatan Perez, Ginat Narkis, Eldad Silberstein, Sara Sivan

Autosomal recessive Adams–Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams–Oliver syndrome genes, identifying a single-homozygosity ∼1.8

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d207de75cac7bb59d6c9a26118bf0b11
https://europepmc.org/articles/PMC3925282/

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Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Autor: Libe Gradstein, Tova Lifshitz, Hagit Flusser, Barak Markus, Ohad S. Birk, Mira Marcus, Yonatan Perez, Yshaia Langer, Idan Cohen, Rotem Kadir

Publikováno v: European journal of human genetics : EJHG. 22(5)

Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e65f2379b584d66d06e1ece80a7d7b4
https://pubmed.ncbi.nlm.nih.gov/24045842

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The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

Autor: Barak Markus, Sara Sivan, Ohad S. Birk, Jenny Zolotushko, Ingemar Björkhem, Yshaia Langer, Ilan Shelef, Maura Heverin, Hagit Flusser

Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue and cultured cells. With only two sporadic cases described to date with two very different phenotypes, the clinical e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe11d0f90a716f4c6752c63c6b53379
https://europepmc.org/articles/PMC3179370/

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