Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Irina Lagovsky"'
Autor:
Idit Lachover-Roth, Irina Lagovsky, Atalia Shtorch-Asor, Ronit Confino-Cohen, Eyal Reinstein, Ben-Zion Garty
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
IntroductionHyper IgE syndromes (HIES) are a group of rare primary immunodeficiency characterized by high levels of serum IgE, cold abscesses, pulmonary infections, and eczema. ZNF341 deficiency was described in 2018 in 11 patients clinically diagnos
Externí odkaz:
https://doaj.org/article/e32fd889330a4227940ed80ef14716c3
Autor:
Aasem Abu Shtaya, Rivka Sukenik‐Halevy, Lily Bazak, Gabriel Arie Lidzbarsky, Claudia Gonzaga‐Jauregui, Irina Lagovsky, Yael Goldberg, Lina Basel‐Salmon
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b245c0b5961f9e0febccef2778c0c937
https://doi.org/10.1111/cge.14344
https://doi.org/10.1111/cge.14344
Autor:
Lina Basel-Vanagaite, Smadar Avigad, L. Hayman-Manzur, M. Weisz Hubshman, K. Shichrur, D. Gaash, Jerry Stein, A. Villa, O. Konen, Ellen Taub, C. Sobacchi, Ben-Zion Garty, Irina Lagovsky, Idit Maya, A. Krauss, Pola Smirin-Yosef, I. Yaniv, Daphna Marom, Mordechai Shohat, Yael Levy
Publikováno v:
Clinical Genetics. 91:902-907
Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a57a653eb382ebad2173034d40344655
https://doi.org/10.1111/cge.12916
https://doi.org/10.1111/cge.12916
Autor:
Hannah Tamary, Noam Shomron, Pola Smirin-Yosef, Daphna Weissglas-Volkov, Joseph Meyerovitch, Luba Farberov, Shay Botchan, Tami Zaft, Tal Pelli, Mali Salmon-Divon, Lina Basel-Vanagaite, Irina Lagovsky, Naama Orenstein, Nir Pillar, Ofer Isakov, Lily Bazak
Publikováno v:
Gene. 606:47-52
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17b244be8189220052b402df1a538ddc
https://doi.org/10.1016/j.gene.2017.01.001
https://doi.org/10.1016/j.gene.2017.01.001
Autor:
Lina Basel-Vanagaite, Nehama Zuckerman-Levin, Mali Salmon-Divon, Irina Lagovsky, Pola Smirin-Yosef, Lisa Wiesmüller, Guntram Borck, Yaron Granot, Shay Tzur, Lior Cohen, Juliane Sachsenweger
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 102:681-688
Context: Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty. Objective:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935d3f64f8c24194593781509316c6a6
https://doi.org/10.1210/jc.2016-2714
https://doi.org/10.1210/jc.2016-2714
Autor:
Shay Ben-Shachar, Lina Basel-Vanagaite, Eyal Reinstein, Bella Davidov, Doron Neumann, Avi Orr-Urtreger, Irina Lagovsky, Pola Smirin-Yosef, Gabriela Peretz Amit
Publikováno v:
Molecular Genetics and Metabolism. 117:38-41
The term isolated ectopia lentis (EL; subluxation or dislocation of the human crystalline lens) is applied to patients with EL, without skeletal features and in the absence of aortic root dilatation. To date, the only gene shown to cause autosomal-re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbdfa3e4191db3d9e63b8e8703307556
https://doi.org/10.1016/j.ymgme.2015.11.011
https://doi.org/10.1016/j.ymgme.2015.11.011
Autor:
Sandra Winzer, Linlin Yang, Karin R. Engelhardt, Michele Proietti, Magdalena L. Wehmeyer, Julia M. Hartberger, Alla Bulashevska, Bodo Grimbacher, Amos Etzioni, Niko Langer, Alejandro A. Schäffer, Bernhard Fleckenstein, Philipp Fröbel, Cristina Glocker, Sara Sebnem Kilic, Anne Puel, Dietmar Pfeifer, Johanna Charlotte Neubauer, Claudia Bossen, Irina Lagovsky, Adi Klein, Jessica Rojas-Restrepo, Vivien Béziat, Idit Lachover-Roth, Manfred Fliegauf, Stefanie Frey-Jakobs, Christina Nöltner, Jean-Laurent Casanova, Stephan Weidinger, Ben-Zion Garty
Signal transducer and activator of transcription 3 (STAT3) is a central regulator of immune homeostasis. STAT3 levels are strictly controlled, and STAT3 impairment contributes to several diseases including the monogenic autosomal-dominant hyper-immun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6dd03ee8868cbca7a585161cbfcc60f
https://europepmc.org/articles/PMC6173313/
https://europepmc.org/articles/PMC6173313/
Autor:
Sanne Broekman, Irina Lagovsky, Lina Basel-Vanagaite, Erwin van Wijk, Shay Tzur, Eyal Banin, Erik de Vrieze, Pola Smirin-Yosef, Lonneke Haer-Wigman, Dror Sharon, Samer Khateb, Monika Weisz Hubshman, Frans P.M. Cremers, Alaa Abu-Diab
Publikováno v:
Human Molecular Genetics, 27, 4, pp. 614-624
Human Molecular Genetics, 27, 614-624
Human Molecular Genetics, 27, 614-624
Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is associated with different groups of genes, including those encoding proteins involved in centriole and cilium biogenesis. Exome sequencing revealed a homozygous non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71c10e70ecb0c1bd167b011d0f775d7
https://pubmed.ncbi.nlm.nih.gov/29272404
https://pubmed.ncbi.nlm.nih.gov/29272404
Publikováno v:
The Israel Medical Association journal : IMAJ. 19(1)
Several studies link the pathogenesis of nephrotic syndrome to tumor necrosis factor-alpha (TNFα). However, data on the serum TNFα level in children with nephrotic syndrome are sparse.To investigate serum TNFα levels and the effect of steroid ther
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a44998b9344f8cff48e33977c9ad530d
https://pubmed.ncbi.nlm.nih.gov/28457111
https://pubmed.ncbi.nlm.nih.gov/28457111
Autor:
Doron M. Behar, Pola Smirin-Yosef, Irina Lagovsky, Lina Basel-Vanagaite, Shay Tzur, Liat de Vries
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 99:E2129-E2132
Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction. The phenotypic spectrum ranges from absence of pubertal maturation to early menopause. Genes involved in essential steps in chromosome synapsis and r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f14ef2602553774a68d9a44396726b3a
https://doi.org/10.1210/jc.2014-1268
https://doi.org/10.1210/jc.2014-1268