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

Glutamate neurotransmission from leptin receptor cells is required for typical puberty and reproductive function in female mice.

瘦素受体细胞的谷氨酸神经传递是雌性小鼠正常青春期发育和生殖功能所必需的

de Miera Cristina Sáenz, Bellefontaine Nicole, Allen Susan J, Myers Martin G Jr, Elias Carol F

Hypothalamic and Cell-Specific Transcriptomes Unravel a Dynamic Neuropil Remodeling in Leptin-Induced and Typical Pubertal Transition in Female Mice

下丘脑和细胞特异性转录组揭示了瘦素诱导和典型青春期雌性小鼠过渡过程中神经毡的动态重塑

Han, Xingfa; Burger, Laura L; Garcia-Galiano, David; Sim, Seokmin; Allen, Susan J; Olson, David P; Myers, Martin G Jr; Elias, Carol F

PI3K signalling in leptin receptor cells: Role in growth and reproduction

瘦素受体细胞中的PI3K信号通路:在生长和繁殖中的作用

Garcia-Galiano, David; Borges, Beatriz C; Allen, Susan J; Elias, Carol F

AMPKα2 in Kiss1 Neurons Is Required for Reproductive Adaptations to Acute Metabolic Challenges in Adult Female Mice

Kiss1神经元中的AMPKα2是成年雌性小鼠应对急性代谢挑战进行生殖适应所必需的

Torsoni, Marcio A; Borges, Beatriz C; Cote, Jessica L; Allen, Susan J; Mahany, Erica; Garcia-Galiano, David; Elias, Carol F

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

全外显子组重测序可区分囊性肾病和肾纤毛病中的表型模拟疾病

Gee, Heon Yung; Otto, Edgar A; Hurd, Toby W; Ashraf, Shazia; Chaki, Moumita; Cluckey, Andrew; Vega-Warner, Virginia; Saisawat, Pawaree; Diaz, Katrina A; Fang, Humphrey; Kohl, Stefan; Allen, Susan J; Airik, Rannar; Zhou, Weibin; Ramaswami, Gokul; Janssen, Sabine; Fu, Clementine; Innis, Jamie L; Weber, Stefanie; Vester, Udo; Davis, Erica E; Katsanis, Nicholas; Fathy, Hanan M; Jeck, Nikola; Klaus, Gunther; Nayir, Ahmet; Rahim, Khawla A; Al Attrach, Ibrahim; Al Hassoun, Ibrahim; Ozturk, Savas; Drozdz, Dorota; Helmchen, Udo; O'Toole, John F; Attanasio, Massimo; Lewis, Richard A; Nürnberg, Gudrun; Nürnberg, Peter; Washburn, Joseph; MacDonald, James; Innis, Jeffrey W; Levy, Shawn; Hildebrandt, Friedhelm

Mutations in EMP2 cause childhood-onset nephrotic syndrome

EMP2基因突变会导致儿童期发病的肾病综合征

Gee, Heon Yung; Ashraf, Shazia; Wan, Xiaoyang; Vega-Warner, Virginia; Esteve-Rudd, Julian; Lovric, Svjetlana; Fang, Humphrey; Hurd, Toby W; Sadowski, Carolin E; Allen, Susan J; Otto, Edgar A; Korkmaz, Emine; Washburn, Joseph; Levy, Shawn; Williams, David S; Bakkaloglu, Sevcan A; Zolotnitskaya, Anna; Ozaltin, Fatih; Zhou, Weibin; Hildebrandt, Friedhelm

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

外显子组捕获揭示了ZNF423和CEP164突变,将肾纤毛病与DNA损伤反应信号联系起来

Chaki, Moumita; Airik, Rannar; Ghosh, Amiya K; Giles, Rachel H; Chen, Rui; Slaats, Gisela G; Wang, Hui; Hurd, Toby W; Zhou, Weibin; Cluckey, Andrew; Gee, Heon Yung; Ramaswami, Gokul; Hong, Chen-Jei; Hamilton, Bruce A; Cervenka, Igor; Ganji, Ranjani Sri; Bryja, Vitezslav; Arts, Heleen H; van Reeuwijk, Jeroen; Oud, Machteld M; Letteboer, Stef J F; Roepman, Ronald; Husson, Hervé; Ibraghimov-Beskrovnaya, Oxana; Yasunaga, Takayuki; Walz, Gerd; Eley, Lorraine; Sayer, John A; Schermer, Bernhard; Liebau, Max C; Benzing, Thomas; Le Corre, Stephanie; Drummond, Iain; Janssen, Sabine; Allen, Susan J; Natarajan, Sivakumar; O'Toole, John F; Attanasio, Massimo; Saunier, Sophie; Antignac, Corinne; Koenekoop, Robert K; Ren, Huanan; Lopez, Irma; Nayir, Ahmet; Stoetzel, Corinne; Dollfus, Helene; Massoudi, Rustin; Gleeson, Joseph G; Andreoli, Sharon P; Doherty, Dan G; Lindstrad, Anna; Golzio, Christelle; Katsanis, Nicholas; Pape, Lars; Abboud, Emad B; Al-Rajhi, Ali A; Lewis, Richard A; Omran, Heymut; Lee, Eva Y-H P; Wang, Shaohui; Sekiguchi, Joann M; Saunders, Rudel; Johnson, Colin A; Garner, Elizabeth; Vanselow, Katja; Andersen, Jens S; Shlomai, Joseph; Nurnberg, Gudrun; Nurnberg, Peter; Levy, Shawn; Smogorzewska, Agata; Otto, Edgar A; Hildebrandt, Friedhelm

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

440例NPHP相关纤毛病患者的基因型-表型相关性

Chaki, Moumita; Hoefele, Julia; Allen, Susan J; Ramaswami, Gokul; Janssen, Sabine; Bergmann, Carsten; Heckenlively, John R; Otto, Edgar A; Hildebrandt, Friedhelm

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

采用 DNA 混合和下一代测序策略对 18 个与肾小管痨相关的纤毛病基因进行突变分析

Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

XPNPEP3 基因发生突变(该基因编码一种线粒体蛋白)的个体,会发展出类似肾痨的肾病。

Neill, Ushma S; Honey, Karen; O’Toole, John F; Liu, Yangjian; Davis, Erica E; Westlake, Christopher J; Attanasio, Massimo; Otto, Edgar A; Seelow, Dominik; Nurnberg, Gudrun; Becker, Christian; Nuutinen, Matti; Kärppä, Mikko; Ignatius, Jaakko; Uusimaa, Johanna; Pakanen, Salla; Jaakkola, Elisa; van den Heuvel, Lambertus P; Fehrenbach, Henry; Wiggins, Roger; Goyal, Meera; Zhou, Weibin; Wolf, Matthias TF; Wise, Eric; Helou, Juliana; Allen, Susan J; Murga-Zamalloa, Carlos A; Ashraf, Shazia; Chaki, Moumita; Heeringa, Saskia; Chernin, Gil; Hoskins, Bethan E; Chaib, Hassan; Gleeson, Joseph; Kusakabe, Takehiro; Suzuki, Takako; Isaac, R Elwyn; Quarmby, Lynne M; Tennant, Bryan; Fujioka, Hisashi; Tuominen, Hannu; Hassinen, Ilmo; Lohi, Hellevi; van Houten, Judith L; Rotig, Agnes; Sayer, John A; Rolinski, Boris; Freisinger, Peter; Madhavan, Sethu M; Herzer, Martina; Madignier, Florence; Prokisch, Holger; Nurnberg, Peter; Jackson, Peter K; Khanna, Hemant; Katsanis, Nicholas; Hildebrandt, Friedhelm