The Genetics of Pemphigus Vulgaris

द्वारा Vodo, Dan, Sarig, Ofer, Sprecher, Eli
में प्रकाशित Front Med (Lausanne) (2018)

Functional Characterization of SAMD9, a Protein Deficient in Normophosphatemic Familial Tumoral Calcinosis

द्वारा Hershkovitz, Dov, Gross, Yonit, Nahum, Sagi, Yehezkel, Shiran, Sarig, Ofer, Uitto, Jouni, Sprecher, Eli
प्रकाशित 2010

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

द्वारा Israeli, Shirli, Khamaysi, Ziyad, Fuchs-Telem, Dana, Nousbeck, Janna, Bergman, Reuven, Sarig, Ofer, Sprecher, Eli
प्रकाशित 2011

A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia

द्वारा Nousbeck, Janna, Burger, Bettina, Fuchs-Telem, Dana, Pavlovsky, Mor, Fenig, Shlomit, Sarig, Ofer, Itin, Peter, Sprecher, Eli
प्रकाशित 2011

ST18 Enhances PV-IgG-Induced Loss of Keratinocyte Cohesion in Parallel to Increased ERK Activation

द्वारा Radeva, Mariya Y., Walter, Elias, Stach, Ramona Alexandra, Yazdi, Amir S., Schlegel, Nicolas, Sarig, Ofer, Sprecher, Eli, Waschke, Jens
में प्रकाशित Front Immunol (2019)

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB

द्वारा Li, Qiaoli, Chung, Hye Jin, Ross, Nicholas, Keller, Matthew, Andrews, Jonathan, Kingman, Joshua, Sarig, Ofer, Fuchs-Telem, Dana, Sprecher, Eli, Uitto, Jouni
में प्रकाशित J Invest Dermatol (2015)

Pemphigus vulgaris is characterized by low IgG reactivities to specific self-antigens along with high IgG reactivity to desmoglein 3

द्वारा Fattal, Ittai, Rimer, Jacob, Shental, Noam, Molad, Yair, Gabrielli, Armando, Livneh, Avi, Sarig, Ofer, Goldberg, Ilan, Gafter, Uzi, Domany, Eytan, Cohen, Irun R
प्रकाशित 2014

Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation

द्वारा Harmon, Robert M., Simpson, Cory L., Johnson, Jodi L., Koetsier, Jennifer L., Dubash, Adi D., Najor, Nicole A., Sarig, Ofer, Sprecher, Eli, Green, Kathleen J.
प्रकाशित 2013

Epstein–Barr virus antibodies mark systemic lupus erythematosus and scleroderma patients negative for anti-DNA

द्वारा Fattal, Ittai, Shental, Noam, Molad, Yair, Gabrielli, Armando, Pokroy-Shapira, Elisheva, Oren, Shirly, Livneh, Avi, Langevitz, Pnina, Pauzner, Rachel, Sarig, Ofer, Gafter, Uzi, Domany, Eytan, Cohen, Irun R
प्रकाशित 2014

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

द्वारा Pigors, Manuela, Sarig, Ofer, Heinz, Lisa, Plagnol, Vincent, Fischer, Judith, Mohamad, Janan, Malchin, Natalia, Rajpopat, Shefali, Kharfi, Monia, Lestringant, Giles G., Sprecher, Eli, Kelsell, David P., Blaydon, Diana C.
में प्रकाशित Am J Hum Genet (2016)

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

द्वारा Fuchs-Telem, Dana, Sarig, Ofer, van Steensel, Maurice A.M., Isakov, Ofer, Israeli, Shirli, Nousbeck, Janna, Richard, Katharina, Winnepenninckx, Veronique, Vernooij, Marigje, Shomron, Noam, Uitto, Jouni, Fleckman, Philip, Richard, Gabriele, Sprecher, Eli
प्रकाशित 2012

Cole Disease Results from Mutations in ENPP1

द्वारा Eytan, Ori, Morice-Picard, Fanny, Sarig, Ofer, Ezzedine, Khaled, Isakov, Ofer, Li, Qiaoli, Ishida-Yamamoto, Akemi, Shomron, Noam, Goldsmith, Tomer, Fuchs-Telem, Dana, Adir, Noam, Uitto, Jouni, Orlow, Seth J., Taieb, Alain, Sprecher, Eli
प्रकाशित 2013

Guanine polynucleotides are self-antigens for human natural autoantibodies and are significantly reduced in the human genome

द्वारा Fattal, Ittai, Shental, Noam, Ben-Dor, Shifra, Molad, Yair, Gabrielli, Armando, Pokroy-Shapira, Elisheva, Oren, Shirly, Livneh, Avi, Langevitz, Pnina, Zandman-Goddard, Gisele, Sarig, Ofer, Margalit, Raanan, Gafter, Uzi, Domany, Eytan, Cohen, Irun R
में प्रकाशित Immunology (2015)

Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene

द्वारा Vodo, Dan, Sarig, Ofer, Geller, Shamir, Ben-Asher, Edna, Olender, Tsviya, Bochner, Ron, Goldberg, Ilan, Nosgorodsky, Judith, Alkelai, Anna, Tatarskyy, Pavel, Peled, Alon, Baum, Sharon, Barzilai, Aviv, Ibrahim, Saleh M., Zillikens, Detlef, Lancet, Doron, Sprecher, Eli
में प्रकाशित PLoS Genet (2016)

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

द्वारा Sarig, Ofer, Nahum, Sagi, Rapaport, Debora, Ishida-Yamamoto, Akemi, Fuchs-Telem, Dana, Qiaoli, Li, Cohen-Katsenelson, Ksenya, Spiegel, Ronen, Nousbeck, Janna, Israeli, Shirli, Borochowitz, Zvi-Uri, Padalon-Brauch, Gilly, Uitto, Jouni, Horowitz, Mia, Shalev, Stavit, Sprecher, Eli
प्रकाशित 2012

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

द्वारा Malki, Liron, Sarig, Ofer, Cesarato, Nicole, Mohamad, Janan, Canter, Talia, Assaf, Sari, Pavlovsky, Mor, Vodo, Dan, Anis, Yossi, Bihari, Ofer, Malovitski, Kiril, Gat, Andrea, Thiele, Holger, White, Bethany E. Perez, Samuelov, Liat, Nanda, Arti, Paller, Amy S., Betz, Regina C., Sprecher, Eli
में प्रकाशित Genet Med (2020)

Epidermolytic ichthyosis sine epidermolysis

द्वारा Eskin-Schwartz, Marina, Drozhdina, Marianna, Sarig, Ofer, Gat, Andrea, Jackman, Tomer, Isakov, Ofer, Shomron, Noam, Samuelov, Liat, Malchin, Natalia, Peled, Alon, Vodo, Dan, Hovnanian, Alain, Ruzicka, Thomas, Koshkin, Sergei, Harmon, Robert M., Koetsier, Jennifer L., Green, Kathleen J., Paller, Amy S., Sprecher, Eli
में प्रकाशित Am J Dermatopathol (2017)

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

द्वारा Mohamad, Janan, Sarig, Ofer, Godsel, Lisa M., Peled, Alon, Malchin, Natalia, Bochner, Ron, Vodo, Dan, Rabinowitz, Tom, Pavlovsky, Mor, Taiber, Shahar, Fried, Maya, Eskin-Schwartz, Marina, Assi, Siwar, Shomron, Noam, Uitto, Jouni, Koetsier, Jennifer L., Bergman, Reuven, Green, Kathleen J., Sprecher, Eli
में प्रकाशित J Invest Dermatol (2018)

The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome

द्वारा Barak, Eran Cohen, Godsel, Lisa M., Koetsier, Jennifer L., Hegazy, Marihan, Kushnir-Grinbaum, Daniella, Hammad, Helwe, Danial- Farran, Nada, Harmon, Robert, Khayat, Morad, Bochner, Ron, Peled, Alon, Rozenblat, Mati, Krausz, Judit, Sarig, Ofer, Johnson, Jodi L., Ziv, Michael, Shalev, Stavit A., Sprecher, Eli, Green, Kathleen J.
में प्रकाशित J Invest Dermatol (2019)

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

द्वारा Basel-Vanagaite, Lina, Sarig, Ofer, Hershkovitz, Dov, Fuchs-Telem, Dana, Rapaport, Debora, Gat, Andrea, Isman, Gila, Shirazi, Idit, Shohat, Mordechai, Enk, Claes D., Birk, Efrat, Kohlhase, Jürgen, Matysiak-Scholze, Uta, Maya, Idit, Knopf, Carlos, Peffekoven, Anette, Hennies, Hans-Christian, Bergman, Reuven, Horowitz, Mia, Ishida-Yamamoto, Akemi, Sprecher, Eli
प्रकाशित 2009