日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Significant Improvement in Bioavailability and Therapeutic Efficacy of Mebendazole Oral Nano-Systems Assessed in a Murine Model with Extreme Phenotypes of Susceptibility to Trichinella spiralis

在对旋毛虫病具有极端易感表型的鼠模型中,评估了甲苯咪唑口服纳米系统的生物利用度和治疗效果的显著提高

Codina, Ana V; Indelman, Paula; Hinrichsen, Lucila I; Lamas, María C

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

新发现的GALNT3基因突变会导致常染色体隐性遗传性骨肥厚-高磷血症综合征

Gok, Faysal; Chefetz, Ilana; Indelman, Margarita; Kocaoglu, Murat; Sprecher, Eli

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

RBM28(一种与核糖体生物合成相关的核仁蛋白)表达下降引起的脱发、神经系统缺陷和内分泌病综合征

Janna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, Margarita Indelman, Ayelet Shani-Adir, Noam Adir, Ehud Lipkin, Sivan Bercovici, Dan Geiger, Maurice A van Steensel, Peter M Steijlen, Reuven Bergman, Albrecht Bindereif, Mordechai Choder, Stavit Shalev, Eli Sprecher

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

塞尔卡尔综合征:一种常染色体隐性遗传疾病,由WNT4基因功能缺失突变引起。

Mandel, Hannah; Shemer, Revital; Borochowitz, Zvi U; Okopnik, Marina; Knopf, Carlos; Indelman, Margarita; Drugan, Arie; Tiosano, Dov; Gershoni-Baruch, Ruth; Choder, Mordechai; Sprecher, Eli

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

由ST14基因突变引起的常染色体隐性遗传性鱼鳞病伴毛发稀疏症,该基因编码II型跨膜丝氨酸蛋白酶matriptase。

Basel-Vanagaite, Lina; Attia, Revital; Ishida-Yamamoto, Akemi; Rainshtein, Limor; Ben Amitai, Dan; Lurie, Raziel; Pasmanik-Chor, Metsada; Indelman, Margarita; Zvulunov, Alex; Saban, Shirley; Magal, Nurit; Sprecher, Eli; Shohat, Mordechai

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

Naegeli-Franceschetti-Jadassohn 综合征和网状色素性皮肤病:由 KRT14 基因显性突变引起的两种等位基因外胚层发育不良

Lugassy, Jennie; Itin, Peter; Ishida-Yamamoto, Akemi; Holland, Kristen; Huson, Susan; Geiger, Dan; Hennies, Hans Christian; Indelman, Margarita; Bercovich, Dani; Uitto, Jouni; Bergman, Reuven; McGrath, John A; Richard, Gabriele; Sprecher, Eli

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

SAMD9基因的有害突变会导致正常磷血症性家族性肿瘤性钙质沉着症。

Topaz, Orit; Indelman, Margarita; Chefetz, Ilana; Geiger, Dan; Metzker, Aryeh; Altschuler, Yoram; Choder, Mordechai; Bercovich, Dani; Uitto, Jouni; Bergman, Reuven; Richard, Gabriele; Sprecher, Eli

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

SNAP29 基因突变(编码参与细胞内运输的 SNARE 蛋白)可导致一种新型神经皮肤综合征,其特征为脑发育不良、神经病变、鱼鳞病和掌跖角化病

Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J O'brien, Dani Bercovich, Stavit Shalev, Dan Geiger, Reuven Bergman, Mia Horowitz, Hanna Mandel

HISTOPATHOLOGY OF THE VERMIFORM APPENDIX

阑尾的组织病理学

Dias-Polak, David; Indelman, Margarita; Bergman, Reuven; Avitan-Hersh, Emily; Wright, D H; Berry, Richard J A