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

Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism

TPO功能域定位:来自苏丹先天性甲状腺功能减退症家族中6个变异体的启示

Islam, Mohammad S; Louzada, Ruy A; Bouviere, Jessica; Ahmed, Amna E; Bernal-Mizrachi, Ernesto; Dumitrescu, Alexandra M; Refetoff, Samuel; Weiss, Roy E

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism

苏丹先天性甲状腺功能减退症家族中pendrin缺陷的患病率

Islam, Mohammad S; Dumitrescu, Alexandra M; Ahmed, Amna; Refetoff, Samuel; Weiss, Roy E

Early-Onset Colorectal Cancer: When to Include Cowden Syndrome in Your Differential Diagnosis

早发性结直肠癌:何时应将考登综合征纳入鉴别诊断

Morny, Joshua; Zakas, Anna; Koebe, Samuel; Weiss, Jennifer M

Epigenetic and molecular coordination between HDAC2 and SMAD3-SKI regulates essential brain tumour stem cell characteristics

HDAC2 和 SMAD3-SKI 之间的表观遗传和分子协调调节脑肿瘤干细胞的基本特征

Ravinder K Bahia, Xiaoguang Hao, Rozina Hassam, Orsolya Cseh, Danielle A Bozek, H Artee Luchman, Samuel Weiss

Chemical genomics reveals targetable programs of human cancers rooted in pluripotency

化学基因组学揭示了源于多能性的人类癌症的可靶向程序

Luca Orlando, Yannick D Benoit, Jennifer C Reid, Mio Nakanishi, Allison L Boyd, Juan L García-Rodriguez, Borko Tanasijevic, Meaghan S Doyle, Artee Luchman, Ian J Restall, Christopher J Bergin, Angelique N Masibag, Lili Aslostovar, Justin Di Lu, Sarah Laronde, Tony J Collins, Samuel Weiss, Mickie Bha

Temporal dynamics of mother-offspring relationships in Bigg's killer whales: opportunities for kin-directed help by post-reproductive females

比格氏虎鲸母子关系的时间动态:绝经后雌性对亲缘关系的帮助机会

Nielsen, Mia Lybkær Kronborg; Ellis, Samuel; Weiss, Michael N; Towers, Jared R; Doniol-Valcroze, Thomas; Franks, Daniel W; Cant, Michael A; Ellis, Graeme M; Ford, John K B; Malleson, Mark; Sutton, Gary J; Shaw, Tasli J H; Balcomb, Kenneth C 3rd; Ellifrit, David K; Croft, Darren P

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation

对携带新型甲状腺激素受体α基因(pC380SfsX9)突变的婴儿进行早期诊断和治疗

Furman, Ary E; Dumitrescu, Alexandra M; Refetoff, Samuel; Weiss, Roy E

Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism

新型DIO1基因突变作为表型修饰因子,影响导致先天性甲状腺功能减退症的新型复合杂合TPO基因突变。

Furman, Aryel; Hannoush, Zeina; Echegoyen, Francisco Barrera; Dumitrescu, Alexandra; Refetoff, Samuel; Weiss, Roy E

Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma

表观基因组的代谢调控驱动致命性婴儿室管膜瘤

Kulandaimanuvel Antony Michealraj,Sachin A Kumar,Leo J Y Kim,Florence M G Cavalli,David Przelicki,John B Wojcik,Alberto Delaidelli,Andrea Bajic,Olivier Saulnier,Graham MacLeod,Ravi N Vellanki,Maria C Vladoiu,Paul Guilhamon,Winnie Ong,John J Y Lee,Yanqing Jiang,Borja L Holgado,Alex Rasnitsyn,Ahmad A Malik,Ricky Tsai,Cory M Richman,Kyle Juraschka,Joonas Haapasalo,Evan Y Wang,Pasqualino De Antonellis,Hiromichi Suzuki,Hamza Farooq,Polina Balin,Kaitlin Kharas,Randy Van Ommeren,Olga Sirbu,Avesta Rastan,Stacey L Krumholtz,Michelle Ly,Moloud Ahmadi,Geneviève Deblois,Dilakshan Srikanthan,Betty Luu,James Loukides,Xiaochong Wu,Livia Garzia,Vijay Ramaswamy,Evgeny Kanshin,María Sánchez-Osuna,Ibrahim El-Hamamy,Fiona J Coutinho,Panagiotis Prinos,Sheila Singh,Laura K Donovan,Craig Daniels,Daniel Schramek,Mike Tyers,Samuel Weiss,Lincoln D Stein,Mathieu Lupien,Bradly G Wouters,Benjamin A Garcia,Cheryl H Arrowsmith,Poul H Sorensen,Stephane Angers , Nada Jabado , Peter B Dirks , Stephen C Mack , Sameer Agnihotri , Jeremy N Rich , Michael D Taylor

Brain Tumor Stem Cell Dependence on Glutaminase Reveals a Metabolic Vulnerability through the Amino Acid Deprivation Response Pathway

脑肿瘤干细胞对谷氨酰胺酶的依赖性通过氨基酸剥夺反应途径揭示了代谢脆弱性

Ian J Restall, Orsolya Cseh, Laura M Richards, Trevor J Pugh, H Artee Luchman, Samuel Weiss