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

A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia

ACAA2基因的一种复发性变异会导致一种显性遗传综合征,其特征为脂肪营养不良、脂肪瘤病、婴儿脂肪性肝炎和低血糖症。

Simha, Vinaya; LoPiccolo, Mary Kate; Platt, Anna; Brown, Rebecca J; Johnson, Xandria; Carere, Deanna Alexis; Donnelly, Colleen; Snyder, Matthew T; Xing, Chao; Mathews, Thomas P; Gopal, Purva; Ward, Stephen C; Tomchick, Diana R; Agarwal, Anil K; DeBerardinis, Ralph J; Garg, Abhimanyu

Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks

基因型优先检测方法揭示单基因脂肪营养不良症诊断不足,存在健康和死亡风险。

Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Evans, Amy V; Hattersley, Andrew T; Weedon, Michael N; Brown, Rebecca J; Patel, Kashyap A

Erratum. Gain of Function NOTCH3 Variants Cause Familial Partial Lipodystrophy Due to Activation of Senescence Pathways. Diabetes 2025;74:427-438

勘误。NOTCH3 功能获得性变异通过激活衰老通路导致家族性部分脂肪营养不良。糖尿病 2025;74:427-438

Garg, Abhimanyu; Xing, Chao; Agarwal, Anil K; Westfall, Aundrea K; Tomchick, Diana R; Zhang, Xunzhi; Xing, Michelle; Brown, Rebecca J

Serum Proteomics of Insulin Resistance Disorders Distinguish MASLD From Lipodystrophy and Insulin Receptor Defects

血清蛋白质组学分析胰岛素抵抗疾病可区分MASLD与脂肪营养不良和胰岛素受体缺陷

Mironova, Maria; Wing, Allison; Abel, Brent S; Podszun, Maren C; Brown, Rebecca J; Rotman, Yaron

Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer

一名患有脂肪营养不良和甲状腺癌的年轻女性的CIDEC和WRN基因中存在新的纯合变异

Patni, Nivedita; Xing, Chao; Huang, Chun-Yuan; Brown, Rebecca J; Garg, Abhimanyu

Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA

由LMNA基因罕见双等位基因变异引起的家族性全身性和局部性脂肪营养不良症

Hwang, Michael; Worthy, Charlita; Cochran, Elaine; Startzell, Megan; Muniyappa, Ranganath; Xing, Chao; Garg, Abhimanyu; Brown, Rebecca J

B Cell Receptor's function in virus entry: Anti-SARS-CoV-2 B cell receptors can mediate viral entry in an ACE2-independent mechanism

细胞受体在病毒入侵中的作用:抗SARS-CoV-2 B细胞受体可通过不依赖于ACE2的机制介导病毒入侵。

Larios, Rene; Hossain, Md Belal; Brown, Rebecca; Jeyachandran, Arjit Vijey; Abu, Angel Elma; Zaiss, Anne Kathrin; Ramirez, Christina M; Kamata, Masakazu; Cole, Steve; Wu, Ting-Ting; Dorshkind, Kenneth; Arumugaswami, Vaithilingaraja; Morizono, Kouki

Association of Changes in Portal Insulin with Immunometabolism During and After Hepatitis C Virus Infection

丙型肝炎病毒感染期间及之后门静脉胰岛素变化与免疫代谢的关联

Menkart, Matthew G; Oringher, Jenna L; Chakraborty, Moumita; Haddad, James A; Quinn, Gabriella M; Zhang, Grace; Townsend, Elizabeth C; Akiva, Kareen L; Scheuing, Lisa; Rai, Anjali; Rampertaap, Shakuntala; Rosenzweig, Sergio D; Koh, Christopher; Brown, Rebecca J; Umarova, Regina; Levy, Elliot B; Kleiner, David E; Ali, Rabab O; Etzion, Ohad; Afruza, Rownock; Heller, Theo

Endogenous and environmental factors that induce DNA replication defects and genomic instability in ER-negative heterozygous BRCA1 cells.

内源性和环境因素可导致 ER 阴性杂合 BRCA1 细胞出现 DNA 复制缺陷和基因组不稳定。

Deshpande Madhura, Paniza Theodore, Brown Rebecca, Heslin Kate, Patel Nitya, Madireddy Advaitha, Rosenwaks Zev, Gerhardt Jeannine

Type B Insulin Resistance: A Case Report of a Rare Complication of Systemic Lupus Erythematosus

B型胰岛素抵抗:系统性红斑狼疮罕见并发症病例报告

Ogbonnaya, S Amara; Williams, Sandra; Lightbourne, Marissa; Brown, Rebecca J