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

Lamin B receptor upregulation in metastatic melanoma causes nuclear envelope fragility in confined migration during cancer invasion

转移性黑色素瘤中层粘蛋白B受体的上调导致癌细胞在侵袭过程中受限迁移时核膜脆弱。

Baird, Michelle A; Jewett, Cayla E; Malide, Daniela A; Kratz, Lisa; Cartagena-Rivera, Alexander X; Fischer, Robert S; Waterman, Clare M

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.

缬氨酸和异亮氨酸氧化的代谢重排可提高丙酰辅酶A代谢紊乱斑马鱼模型的存活率

Hong Sungkook, Pardo Joel, Head PamelaSara E, Ellis Katharine T, Arnold Madeline L, Achilly Nathan P, Carrington Blake, Bishop Kevin, Sood Raman, Kratz Lisa, Sloan Jennifer L, Shchelochkov Oleg A, Venditti Charles P

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关

Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem

一位女性死后才被诊断出患有鸟氨酸转氨甲酰酶缺乏症,她非凡的求学之路

Forsyth, RaeLynn; Peretz, Ryan H; Dempsey, Angela; Britton, Jacquelyn; Kratz, Lisa; Hamosh, Ada; Vernon, Hilary; Batshaw, Mark L; Valle, David

ATRX loss promotes immunosuppressive mechanisms in IDH1 mutant glioma

ATRX缺失促进IDH1突变型胶质瘤的免疫抑制机制

Hu, Chengchen; Wang, Kimberly; Damon, Ceylan; Fu, Yi; Ma, Tengjiao; Kratz, Lisa; Lal, Bachchu; Ying, Mingyao; Xia, Shuli; Cahill, Daniel P; Jackson, Christopher M; Lim, Michael; Laterra, John; Li, Yunqing

Fumaric Aciduria: A Rare Cause of Refractory Epilepsy

富马酸尿症:一种罕见的难治性癫痫病因

Yoganathan, Sangeetha; Srinivasaraghavan, Rangan; Kumar, Madhan; Kratz, Lisa; Mular, Shraddha; Sudhakar, Sniya V; Malik, Prateek; Chandran, Mahalakshmi; Thomas, Maya; Danda, Sumita

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

甾醇和脂质分析可识别自闭症患者中与适应性功能缺陷相关的低脂血症和载脂蛋白紊乱。

Tierney, Elaine; Remaley, Alan T; Thurm, Audrey; Jager, Leah R; Wassif, Christopher A; Kratz, Lisa E; Bailey-Wilson, Joan E; Bukelis, Irena; Sarphare, Geeta; Jung, Eun Sol; Brand, Boudewien; Noah, Kelly K; Porter, Forbes D

Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1

琥珀酸半醛脱氢酶缺乏症患者发生代谢性或缺血性卒中,该病由ALDH5A1基因纯合变异c.1343+1_1343+3delGTAinsTT引起

Yoganathan, Sangeetha; Arunachal, Gautham; Kratz, Lisa; Varman, Mugil; Thomas, Maya; Sudhakar, Sniya V; Oommen, Samuel P; Danda, Sumita

Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder

甘氨酸脑病轻型:一种罕见的神经发育障碍病因

Yoganathan, Sangeetha; Srinivasaraghavan, Rangan; Chandran, Mahalakshmi; Kratz, Lisa; Koshy, Beena; Sudhakar, Sniya Valsa; Arunachal, Gautham; Thomas, Maya; Danda, Sumita

Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder

患有D-2-羟基戊二酸尿症II型的儿童:一种罕见的神经代谢疾病

Srinivasaraghavan, Rangan; Sharma, Suvasini; Kratz, Lisa; Malik, Prateek; Yoganathan, Sangeetha; Danda, Sumita; Oommen, Samuel Philip