Pramparo相关文献与解析，生知库 | 链接生命科学的每一步

Ferren, Edwin; Hillman, Paul R; Kritzer, Amy; Ray, Joseph; Serrano, Alvaro; Northrup, Hope; Roberts, Paige; Dutta, Rana; Pramparo, Tiziano; Vig, Pamela; Steiner, Robert D

发表日期：2025

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Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions

利用基因组数据库确定常染色体隐性遗传疾病的发生频率和人群异质性

期刊:Genetics in Medicine Open

影响因子:

doi:10.1016/j.gimo.2024.101881

Hannah, William B; Drumm, Mitchell L; Nykamp, Keith; Pramparo, Tiziano; Steiner, Robert D; Schrodi, Steven J

发表日期：2024

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Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice

内皮素和血管紧张素受体的双重抑制可改善 Alport 小鼠的肾脏和内耳病变

期刊:Journal of Pathology

影响因子:5.6

doi:10.1002/path.6087

Dominic Cosgrove, Michael Anne Gratton, Jacob Madison, Denise Vosik, Gina Samuelson, Daniel Meehan, Duane Delimont, Grady Phillips, Brendan Smyth, Tiziano Pramparo, Diana Jarocki, Mai Nguyen, Radko Komers, Celia Jenkinson

心血管

发表日期：2023

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Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

脑腱黄瘤病的等位基因流行率和地理分布

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-022-02578-1

Pramparo, Tiziano; Steiner, Robert D; Rodems, Steve; Jenkinson, Celia

神经科学

发表日期：2023

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Atypical genomic cortical patterning in autism with poor early language outcome

自闭症患者早期语言发育不良，其基因组皮质模式异常

期刊:Science Advances

影响因子:12.5

doi:10.1126/sciadv.abh1663

Lombardo, Michael V; Eyler, Lisa; Pramparo, Tiziano; Gazestani, Vahid H; Hagler, Donald J Jr; Chen, Chi-Hua; Dale, Anders M; Seidlitz, Jakob; Bethlehem, Richard A I; Bertelsen, Natasha; Barnes, Cynthia Carter; Lopez, Linda; Campbell, Kathleen; Lewis, Nathan E; Pierce, Karen; Courchesne, Eric

Circulating Tumor Cell Subtypes and T-cell Populations as Prognostic Biomarkers to Combination Immunotherapy in Patients with Metastatic Genitourinary Cancer

循环肿瘤细胞亚型和T细胞群作为转移性泌尿生殖系统癌症患者联合免疫治疗的预后生物标志物

期刊:Clinical Cancer Research

影响因子:10.2

doi:10.1158/1078-0432.CCR-20-2891

Chalfin, Heather J; Pramparo, Tiziano; Mortazavi, Amir; Niglio, Scot A; Schonhoft, Joseph D; Jendrisak, Adam; Chu, Yen-Lin; Richardson, Robin; Krupa, Rachel; Anderson, Amanda K L; Wang, Yipeng; Dittamore, Ryan; Pal, Sumanta K; Lara, Primo N; Stein, Mark N; Quinn, David I; Steinberg, Seth M; Cordes, Lisa M; Ley, Lisa; Mallek, Marissa; Sierra Ortiz, Olena; Costello, Rene; Cadena, Jacqueline; Diaz, Carlos; Gulley, James L; Dahut, William L; Streicher, Howard; Wright, John J; Trepel, Jane B; Bottaro, Donald P; Apolo, Andrea B

Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism

治疗前临床和基因表达模式可预测自闭症早期干预后的发育变化

期刊:Molecular Psychiatry

影响因子:10.1

doi:10.1038/s41380-021-01239-2

Lombardo, Michael V; Busuoli, Elena Maria; Schreibman, Laura; Stahmer, Aubyn C; Pramparo, Tiziano; Landi, Isotta; Mandelli, Veronica; Bertelsen, Natasha; Barnes, Cynthia Carter; Gazestani, Vahid; Lopez, Linda; Bacon, Elizabeth C; Courchesne, Eric; Pierce, Karen

Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing

多次冻融循环会导致富含poly(A)的RNA测序结果一致性下降。

期刊:BMC Genomics

影响因子:3.5

doi:10.1186/s12864-021-07381-z.

Benjamin P Kellman #,Hratch M Baghdassarian #,Tiziano Pramparo,Isaac Shamie,Vahid Gazestani,Arjana Begzati,Shangzhong Li,Srinivasa Nalabolu,Sarah Murray,Linda Lopez,Karen Pierce,Eric Courchesne,Nathan E Lewis

发表日期：2021

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Sex-specific impact of prenatal androgens on social brain default mode subsystems

产前雄激素对社会脑默认模式子系统的性别特异性影响

期刊:Molecular Psychiatry

影响因子:10.1

doi:10.1038/s41380-018-0198-y

Lombardo, Michael V; Auyeung, Bonnie; Pramparo, Tiziano; Quartier, Angélique; Courraud, Jérémie; Holt, Rosemary J; Waldman, Jack; Ruigrok, Amber N V; Mooney, Natasha; Bethlehem, Richard A I; Lai, Meng-Chuan; Kundu, Prantik; Bullmore, Edward T; Mandel, Jean-Louis; Piton, Amélie; Baron-Cohen, Simon

A perturbed gene network containing PI3K-AKT, RAS-ERK and WNT-β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity

白细胞中包含PI3K-AKT、RAS-ERK和WNT-β-catenin通路的基因网络紊乱与自闭症谱系障碍（ASD）的遗传因素和症状严重程度相关。

期刊:Nature Neuroscience

影响因子:20

doi:10.1038/s41593-019-0489-x

Gazestani, Vahid H; Pramparo, Tiziano; Nalabolu, Srinivasa; Kellman, Benjamin P; Murray, Sarah; Lopez, Linda; Pierce, Karen; Courchesne, Eric; Lewis, Nathan E

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes

胆酸在史密斯-莱姆利-奥皮茨综合征（SLOS）中的应用：真实世界患者结局

Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions

利用基因组数据库确定常染色体隐性遗传疾病的发生频率和人群异质性

Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice

内皮素和血管紧张素受体的双重抑制可改善 Alport 小鼠的肾脏和内耳病变

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

脑腱黄瘤病的等位基因流行率和地理分布

Atypical genomic cortical patterning in autism with poor early language outcome

自闭症患者早期语言发育不良，其基因组皮质模式异常

Circulating Tumor Cell Subtypes and T-cell Populations as Prognostic Biomarkers to Combination Immunotherapy in Patients with Metastatic Genitourinary Cancer

循环肿瘤细胞亚型和T细胞群作为转移性泌尿生殖系统癌症患者联合免疫治疗的预后生物标志物

Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism

治疗前临床和基因表达模式可预测自闭症早期干预后的发育变化

Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing

多次冻融循环会导致富含poly(A)的RNA测序结果一致性下降。

Sex-specific impact of prenatal androgens on social brain default mode subsystems

产前雄激素对社会脑默认模式子系统的性别特异性影响

A perturbed gene network containing PI3K-AKT, RAS-ERK and WNT-β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity

白细胞中包含PI3K-AKT、RAS-ERK和WNT-β-catenin通路的基因网络紊乱与自闭症谱系障碍（ASD）的遗传因素和症状严重程度相关。