Saba Julie D相关文献与解析，生知库 | 链接生命科学的每一步

Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4(+) cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotype.

超级增强子分析揭示了 ThPOK/ZBTB7B（一种 CD4(+) 细胞谱系决定因子）是限制乳腺癌细胞为管腔非迁移表型的主要调节因子。

Arcuschin Camila D, Kahrizi Kamin, Sayaman Rosalyn W, DiBenedetto Carolina, Salaberry Pedro J, Pirker Roxana, Shen Yizhuo, Zakraoui Ons, Schwarzer Cecilia, Scapozza Alessandro, Caruso Joseph A, Betancur Paola, Saba Julie D, CoppÃ© Jean-Philippe, Barcellos-Hoff Mary-Helen, Kappes Dietmar, van 't Veer Laura, Schor Ignacio E, MuÃ±oz Denise P

乳腺癌

Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4+ cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotype

超级增强子分析揭示了CD4+细胞谱系定向因子ThPOK/ZBTB7B是限制乳腺癌细胞分化为管腔型非迁移表型的关键调控因子。

期刊:

影响因子:

doi:10.21203/rs.3.rs-6240646/v1

Muñoz, Denise Paula; Arcuschin, Camila D; Kahrizi, Kamin; Sayaman, Rosalyn W; DiBenedetto, Carolina; Salaberry, Pedro J; Shen, Yizhuo; Zakroui, Ons; Schwarzer, Cecilia; Scapozza, Alessandro; Betancur, Paola; Saba, Julie D; Coppé, Jean-Philippe; Barcellos-Hoff, Mary-Helen; Kappes, Dietmar; Veer, Laura van 't; Schor, Ignacio E

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

DEGS1 中的一种新型剪接位点变异导致异常剪接和 DEGS1 酶活性丧失，这是一个已解决的 VUS

期刊:

影响因子:

doi:10.1101/2025.04.04.25325118

Beale Holly C, Tse Victor, Lee Joanna Y, Akutagawa Jon, Mavura Yusuph, Saint-John Brandon, Cheney Allison, Mulligan Dennis R, Chacaltana Guillermo, Gutierrez Martin, Tenney Jessica, Shieh Joseph T, Martin Pierre-Marie, Yip Tiffany, Hodoglugil Ugur, Fay Alex J, Brooks Angela N, Van Ziffle Jessica, Stone Michael D, Risch Neil, Sanford Jeremy R, Devine Patrick, Saba Julie D, Vaske Olena M, Slavotinek Anne

免疫/内分泌

发表日期：2025

文献求助收藏

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients

影响鞘氨醇磷酸裂解酶不足综合征患者生存的因素：一项对76例患者进行的回顾性横断面自然史研究

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-024-03311-w

Keller, Nancy; Midgley, Julian; Khalid, Ehtesham; Lesmana, Harry; Mathew, Georgie; Mincham, Christine; Teig, Norbert; Khan, Zubair; Khosla, Indu; Mehr, Sam; Guran, Tulay; Buder, Kathrin; Xu, Hong; Alhasan, Khalid; Buyukyilmaz, Gonul; Weaver, Nicole; Saba, Julie D

发表日期：2024

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Sphingosine phosphate lyase insufficiency syndrome as a primary immunodeficiency state

鞘氨醇磷酸裂解酶不足综合征是一种原发性免疫缺陷状态

期刊:Advances in Biological Regulation

影响因子:2.4

doi:10.1016/j.jbior.2024.101058

Gharagozlou, Saber; Wright, NicolaA M; Murguia-Favela, Luis; Eshleman, Juliette; Midgley, Julian; Saygili, Seha; Mathew, Georgie; Lesmana, Harry; Makkoukdji, Nadia; Gans, Melissa; Saba, Julie D

免疫/内分泌

发表日期：2024

文献求助收藏

Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4 (+) cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotype

超级增强子分析揭示了CD4(+)细胞谱系定向因子ThPOK/ZBTB7B是限制乳腺癌细胞分化为管腔型非迁移表型的关键调控因子。

期刊:

影响因子:

doi:10.1101/2024.09.21.614267

Arcuschin, Camila D; Kahrizi, Kamin; Sayaman, Rosalyn W; DiBenedetto, Carolina; Shen, Yizhuo; Salaberry, Pedro J; Zakroui, Ons; Schwarzer, Cecilia; Scapozza, Alessandro; Betancur, Paola; Saba, Julie D; Coppé, Jean-Philippe; Barcellos-Hoff, Mary-Helen; Kappes, Dietmar; van 't Veer, Laura; Schor, Ignacio E; Muñoz, Denise P

Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations

全球及特定人群中鞘氨醇磷酸裂解酶不足综合征的患病率估计

期刊:Genetics in Medicine Open

影响因子:

doi:10.1016/j.gimo.2023.100840

Sedillo, Joni C; Badduke, Chansonette; Schrodi, Steven J; Scaria, Vinod; Onat, Onur Emre; Alfadhel, Majid; Ober, Carole; Wentworth-Sheilds, William; Steiner, Robert D; Saba, Julie D

发表日期：2024

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Neurological Consequences of Sphingosine Phosphate Lyase Insufficiency

鞘氨醇磷酸裂解酶不足的神经系统后果

期刊:Frontiers in Cellular Neuroscience

影响因子:4

doi:10.3389/fncel.2022.938693

Atreya, Krishan B; Saba, Julie D

发表日期：2022

文献求助收藏

Analyzing Opposing Interactions Between Sphingosine 1-Phosphate Lyase and Influenza A Virus

分析鞘氨醇-1-磷酸裂解酶与甲型流感病毒之间的相反相互作用

期刊:

影响因子:

doi:10.1089/dna.2022.0071

Wolf, Jennifer J; Saba, Julie D; Hahm, Bumsuk

Tweaking the Complex Fibrogenic Role of Lymphocytes in Idiopathic Pulmonary Fibrosis

调整淋巴细胞在特发性肺纤维化中的复杂纤维化作用

Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4(+) cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotype.

超级增强子分析揭示了 ThPOK/ZBTB7B（一种 CD4(+) 细胞谱系决定因子）是限制乳腺癌细胞为管腔非迁移表型的主要调节因子。

Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4+ cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotype

超级增强子分析揭示了CD4+细胞谱系定向因子ThPOK/ZBTB7B是限制乳腺癌细胞分化为管腔型非迁移表型的关键调控因子。

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

DEGS1 中的一种新型剪接位点变异导致异常剪接和 DEGS1 酶活性丧失，这是一个已解决的 VUS

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients

影响鞘氨醇磷酸裂解酶不足综合征患者生存的因素：一项对76例患者进行的回顾性横断面自然史研究

Sphingosine phosphate lyase insufficiency syndrome as a primary immunodeficiency state

鞘氨醇磷酸裂解酶不足综合征是一种原发性免疫缺陷状态

Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4 (+) cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotype

超级增强子分析揭示了CD4(+)细胞谱系定向因子ThPOK/ZBTB7B是限制乳腺癌细胞分化为管腔型非迁移表型的关键调控因子。

Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations

全球及特定人群中鞘氨醇磷酸裂解酶不足综合征的患病率估计

Neurological Consequences of Sphingosine Phosphate Lyase Insufficiency

鞘氨醇磷酸裂解酶不足的神经系统后果

Analyzing Opposing Interactions Between Sphingosine 1-Phosphate Lyase and Influenza A Virus

分析鞘氨醇-1-磷酸裂解酶与甲型流感病毒之间的相反相互作用