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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

肺泡毛细血管发育不良伴肺静脉错位的发病机制

Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V; Akdemir, Kadir Caner; Jhangiani, Shalini N; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G; Bateman, David A; Wilson, Ashley L; Markham, Melinda H; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A; Kelly, David R; Shieh, Joseph; Rosenthal, Taryn C; Scheible, Kristin; Steiner, Laurie; Iqbal, M Anwar; McKinnon, Margaret L; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R; DeNapoli, Thomas S; Littlejohn, Rebecca Okashah; Wolff, Daynna J; Wagner, Carol L; Yeung, Alison; Francis, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A; Janssens, Sandra; De Baere, Elfride; Menten, Björn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S; Kussmann, Jennifer L; Chawla, Jasneek; Payton, Diane J; Phillips, Gael E; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; McKay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A; Langston, Claire; Lupski, James R; Sen, Partha; Popek, Edwina; Stankiewicz, Paweł

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

两个与远端 FOXF1 增强子重叠的缺失揭示了 lncRNA LINC01081 在肺泡毛细血管发育不良伴肺静脉错位病因学中的作用

Szafranski, Przemyslaw; Dharmadhikari, Avinash V; Wambach, Jennifer A; Towe, Chris T; White, Frances V; Grady, R Mark; Eghtesady, Pirooz; Cole, F Sessions; Deutsch, Gail; Sen, Partha; Stankiewicz, Paweł

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.

包括 lncRNA 基因在内的小型非编码差异甲基化拷贝数变异会导致致命的肺部发育障碍

Szafranski Przemyslaw, Dharmadhikari Avinash V, Brosens Erwin, Gurha Priyatansh, Kolodziejska Katarzyna E, Zhishuo Ou, Dittwald Piotr, Majewski Tadeusz, Mohan K Naga, Chen Bo, Person Richard E, Tibboel Dick, de Klein Annelies, Pinner Jason, Chopra Maya, Malcolm Girvan, Peters Gregory, Arbuckle Susan, Guiang Sixto F 3rd, Hustead Virginia A, Jessurun Jose, Hirsch Russel, Witte David P, Maystadt Isabelle, Sebire Neil, Fisher Richard, Langston Claire, Sen Partha, Stankiewicz Paweł

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

一例伴有肺静脉错位的家族性肺泡毛细血管发育不良病例支持人类FOXF1基因的父系印记。

Sen, Partha; Gerychova, Romana; Janku, Petr; Jezova, Marta; Valaskova, Iveta; Navarro, Colby; Silva, Iris; Langston, Claire; Welty, Stephen; Belmont, John; Stankiewicz, Pawel

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain

在散发性和家族性肺泡毛细血管发育不良伴肺静脉错位病例中发现的新型FOXF1突变提示其DNA结合域可能发挥作用。

Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E; Dharmadhikari, Avinash V; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kathleen; Lantz, Patrick E; Garvin, A Julian; Petty, John; Kiblawi, Zeina; Zuppan, Craig; McConkie-Rosell, Allyn; McDonald, Marie T; Peterson-Carmichael, Stacey L; Gaede, Jane T; Shivanna, Binoy; Schady, Deborah; Friedlich, Philippe S; Hays, Stephen R; Palafoll, Irene Valenzuela; Siebers-Renelt, Ulrike; Bohring, Axel; Finn, Laura S; Siebert, Joseph R; Galambos, Csaba; Nguyen, Lananh; Riley, Melissa; Chassaing, Nicolas; Vigouroux, Adeline; Rocha, Gustavo; Fernandes, Susana; Brumbaugh, Jane; Roberts, Kari; Ho-Ming, Luk; Lo, Ivan F M; Lam, Stephen; Gerychova, Romana; Jezova, Marta; Valaskova, Iveta; Fellmann, Florence; Afshar, Katayoun; Giannoni, Eric; Muhlethaler, Vincent; Liang, Jinlong; Beckmann, Jacques S; Lioy, Janet; Deshmukh, Hitesh; Srinivasan, Lakshmi; Swarr, Daniel T; Sloman, Melissa; Shaw-Smith, Charles; van Loon, Rosa Laura; Hagman, Cecilia; Sznajer, Yves; Barrea, Catherine; Galant, Christine; Detaille, Thierry; Wambach, Jennifer A; Cole, F Sessions; Hamvas, Aaron; Prince, Lawrence S; Diderich, Karin E M; Brooks, Alice S; Verdijk, Robert M; Ravindranathan, Hari; Sugo, Ella; Mowat, David; Baker, Michael L; Langston, Claire; Welty, Stephen; Stankiewicz, Pawel

Short-term administration of rhGH increases markers of cellular proliferation but not milk protein gene expression in normal lactating women

短期注射重组人生长激素(rhGH)可增加正常哺乳期妇女的细胞增殖标志物,但不会增加乳蛋白基因表达。

Maningat, Patricia D; Sen, Partha; Rijnkels, Monique; Hadsell, Darryl L; Bray, Molly S; Haymond, Morey W

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

16q24.1上FOX基因簇的基因组和基因缺失以及FOXF1的失活突变会导致肺泡毛细血管发育不良和其他畸形。

Stankiewicz, Paweł; Sen, Partha; Bhatt, Samarth S; Storer, Mekayla; Xia, Zhilian; Bejjani, Bassem A; Ou, Zhishuo; Wiszniewska, Joanna; Driscoll, Daniel J; Maisenbacher, Melissa K; Bolivar, Juan; Bauer, Mislen; Zackai, Elaine H; McDonald-McGinn, Donna; Nowaczyk, Małgorzata M J; Murray, Mitzi; Hustead, Virginia; Mascotti, Kristin; Schultz, Regina; Hallam, Lavinia; McRae, Duncan; Nicholson, Andrew G; Newbury, Robert; Durham-O'Donnell, Jane; Knight, Gail; Kini, Usha; Shaikh, Tamim H; Martin, Vicki; Tyreman, Matthew; Simonic, Ingrid; Willatt, Lionel; Paterson, Joan; Mehta, Sarju; Rajan, Diana; Fitzgerald, Tomas; Gribble, Susan; Prigmore, Elena; Patel, Ankita; Shaffer, Lisa G; Carter, Nigel P; Cheung, Sau Wai; Langston, Claire; Shaw-Smith, Charles

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

鉴定出一种导致先天性重症肌无力并影响突触功能的Agrin基因突变

Ayub, Muhammad; Basit, Sulman; Jelani, Musharraf; Ur Rehman, Fazal; Iqbal, Muhammad; Yasinzai, Masoom; Ahmad, Wasim; Williamson, Robin E; Miller, Fiona Alice; Garber, Kathryn B; Stankiewicz, Pawel; Sen, Partha; Bhatt, Samarth S; Storer, Mekayla; Xia, Zhilian; Bejjani, Bassem A; Ou, Zhishuo; Wiszniewska, Joanna; Driscoll, Daniel J; Maisenbacher, Melissa K; Bolivar, Juan; Bauer, Mislen; Zackai, Elaine H; McDonald-McGinn, Donna; Nowaczyk, Malgorzata MJ; Murray, Mitzi; Hustead, Virginia; Mascotti, Kristin; Schultz, Regina; Hallam, Lavinia; McRae, Duncan; Nicholson, Andrew G; Newbury, Robert; Durham-O'Donnell, Jane; Knight, Gail; Kini, Usha; Shaikh, Tamim H; Martin, Vicki; Tyreman, Matthew; Simonic, Ingrid; Willatt, Lionel; Paterson, Joan; Mehta, Sarju; Jones, Christy W; Rajan, Diana; Fitzgerald, Tomas; Gribble, Susan; Prigmore, Elena; Patel, Ankita; Shaffer, Lisa G; Carter, Nigel P; Cheung, Sau Wai; Langston, Claire; Shaw-Smith, Charles; Huzé, Caroline; Bauché, Stéphanie; Richard, Pascale; Chevessier, Frédéric; Goillot, Evelyne; Gaudon, Karen; Ben Ammar, Asma; Chaboud, Annie; Grosjean, Isabelle; Lecuyer, Heba-Aude; Bernard, Véronique; Rouche, Andrée; Alexandri, Nektaria; Kuntzer, Thierry; Fardeau, Michel; Fournier, Emmanuel; Brancaccio, Andrea; Rüegg, Markus A; Koenig, Jeanine; Eymard, Bruno; Schaeffer, Laurent; Hantaï, Daniel

Gene expression in the human mammary epithelium during lactation: the milk fat globule transcriptome

哺乳期人乳腺上皮细胞的基因表达:乳脂球转录组

Maningat, Patricia D; Sen, Partha; Rijnkels, Monique; Sunehag, Agneta L; Hadsell, Darryl L; Bray, Molly; Haymond, Morey W

The maltase-glucoamylase gene: common ancestry to sucrase-isomaltase with complementary starch digestion activities

麦芽糖酶-葡糖淀粉酶基因:与蔗糖酶-异麦芽糖酶具有共同祖先,且具有互补的淀粉消化活性

Nichols, Buford L; Avery, Stephen; Sen, Partha; Swallow, Dallas M; Hahn, Dagmar; Sterchi, Erwin