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

Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy

LMNA变异位点与心肌病临床结局的关系

Bhaskaran, Ashwin; Ben Yaou, Rabah; Helms, Adam S; Fayssoil, Abdallah; Richard, Pascale; Stojkovic, Tanya; Anselme, Frédéric; Labombarda, Fabien; Chikhaoui, Cathy; De Sandre-Giovannoli, Annachiara; Jeru, Isabelle; Leturcq, France; Vigouroux, Corinne; Dembele, Mohamed; Elliott, Perry; Savvatis, Konstantinos; Zeppenfeld, Katja; Bouguerra, Hassina; Charron, Philippe; Kumar, Saurabh; Bonne, Gisèle; Wahbi, Karim; Lakdawala, Neal K

Coordinated neuron-specific splicing events restrict nucleosome engagement of the LSD1 histone demethylase complex

协调的神经元特异性剪接事件限制了 LSD1 组蛋白去甲基化酶复合物的核小体参与

Robert S Porter, Sojin An, Maria C Gavilan, Masayoshi Nagai, Yumie Murata-Nakamura, Bo Zhou, Katherine M Bonefas, Olivier Dionne, Jeru Manoj Manuel, Joannie St-Germain, Suzanne Gascon, Jacqueline Kim, Liam Browning, Benoit Laurent, Uhn-Soo Cho, Shigeki Iwase

Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome

ROSAH 综合征中新型 ALPK1 变异的发现及功能分析

Tom Snelling, Leo O Garnotel, Isabelle Jeru, Maud Tusseau, Laurence Cuisset, Antoinette Perlat, Geoffrey Minard, Thibaut Benquey, Yann Maucourant, Nicola T Wood, Philip Cohen, Alban Ziegler2

Re-evaluating the impact of alternative RNA splicing on proteomic diversity

重新评估RNA选择性剪接对蛋白质组多样性的影响

Manuel, Jeru Manoj; Guilloy, Noé; Khatir, Inès; Roucou, Xavier; Laurent, Benoit

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

EPHX1基因突变会导致脂肪萎缩性糖尿病综合征,这是由于环氧化物水解受损和细胞衰老增加所致。

Jeremie Gautheron ,Christophe Morisseau ,Wendy K Chung ,Jamila Zammouri ,Martine Auclair ,Genevieve Baujat ,Emilie Capel ,Celia Moulin ,Yuxin Wang ,Jun Yang ,Bruce D Hammock ,Barbara Cerame ,Franck Phan ,Bruno Fève ,Corinne Vigouroux ,Fabrizio Andreelli ,Isabelle Jeru

European lipodystrophy registry: background and structure

欧洲脂肪营养不良登记处:背景和结构

von Schnurbein, Julia; Adams, Claire; Akinci, Baris; Ceccarini, Giovanni; D'Apice, Maria Rosaria; Gambineri, Alessandra; Hennekam, Raoul C M; Jeru, Isabelle; Lattanzi, Giovanna; Miehle, Konstanze; Nagel, Gabriele; Novelli, Giuseppe; Santini, Ferruccio; Santos Silva, Ermelinda; Savage, David B; Sbraccia, Paolo; Schaaf, Jannik; Sorkina, Ekaterina; Tanteles, George; Vantyghem, Marie-Christine; Vatier, Camille; Vigouroux, Corinne; Vorona, Elena; Araújo-Vilar, David; Wabitsch, Martin

SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome

SUN-037 诊断挑战在 4 型家族性部分脂肪营养不良综合征中的作用

Li, Dingfeng; El Kawkgi, Omar M; Morris, John C 3rd; Castellanos-Diaz, Jessica; Mathews, Sherin Elsa; Barsamyan, Gayane; Julio, Leey-Casellas; Kadiyala, Sushma; Dawood, Nardeen; Nguyen, Dalena; Tseng, Chi-Hong; Livhits, Masha Jean; Leung, Angela M; Yeh, Michael W; Vantyghem, Marie-Christine; Jeru, Isabelle; Bismuth, Elise; Meggison, Hilary; Auclair, Martine; Vatier, Camille; Delemer, Brigitte; Lascols, Olivier; Savage, David; Vigouroux, Corinne

RNA interference mediated downregulation of human telomerase reverse transcriptase (hTERT) in LN18 cells

RNA 干扰介导 LN18 细胞中人类端粒酶逆转录酶 (hTERT) 的下调

Ch Lavanya, M K Sibin, M M Srinivas Bharath, M Jeru Manoj, Manjunatha M Venkataswamy, Dhananjaya I Bhat, K V L Narasinga Rao, G K Chetan

Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in South Indian population

CDKN2A/B基因中的两种多态性(rs4977756和rs11515)与南印度人群胶质瘤风险的关系

Sibin, M K; Dhananjaya, I Bhat; Narasingarao, K V L; Harshitha, S M; Jeru-Manoj, M; Chetan, G K

Association of ESR and FOXP3 gene polymorphisms with outcome of ovarian stimulation in infertile females undergoing IVF

ESR和FOXP3基因多态性与不孕女性体外受精卵巢刺激结局的相关性

Wegner, Rolf-Dieter; Stumm, Markus; Hofmann, Wera; Halder, Ashutosh; Jain, Manish; Chaudhary, Isha; Pathak, Ashutosh; Agarwal, Divya; Phadke, Shubha R; Sibin, M K; Chetan, GK; Lavanya, Ch; Jeru, Manoj M; Bhat, Dhananjaya I; Barna, Basanti; Badaruddoza; Matharoo, Kawaljit; Bhanwer, Amarjeet Singh; Thakur, Swati B; Rao, Mandava V; Kavitha, Eppa; Goud, Iravathy; Latha, Swarna; Swain, Meenakshi; De Paude, Michelle; Modi, Tejal; Anuradha; V, Ravi; Aneeb, Sakina; M, Adi Maha Lakshmi; P, Vijayanand Reddy; Ghosh, Priyanka; Bhaumik, Pranami; Dey, Subrata K; Prabhakar, Puttachandra; Christopher, Rita; Nagaraja, Dindagur; Chawla, Diwesh; Bansal, Savita; Kare, Pawan K; Basu Dev, Basu; Madhu, Sri Venkata; Tripathi, Ashok K; Shaikh, Nuzhat; Shah, Nalini; Mukherjee, Srabani; Mistri, Mehul; Patel, Harsh; Tanna, Tanmay; Ankleshwaria, Chitra; Sheth, Frenny; Sheth, Jayesh; Singh, Rajan; Mittal, Balraj; Ghoshal, Uday C; Ravishankara; Shreeshakala; Rai, S Padmalatha; Prasad, Kerthana; Deepthi, C; Gopinath, PM; Satyamoorthy, K; Vallabani, NV Srikanth; Shukla, Ritesh K; Konka, Dinesh; Kumar, Ashutosh; Singh, Sanjay; Dhawan, Alok; Bhattacharya, Soumyaroop; Zhou, Zhongyang; Yee, Min; Lopez, Ashley; Lunger, Valarie; Buczynski, Bradley; Pryhuber, Gloria; Mariani, Thomas; OReilly, Michael; Bhattacharjee, Ashima; Ralle, Martina; Lutsenko, Svetlana; Singh, Pawan Kumar; Sharma, Shipra; Ghosh, Manju; Shastri, Shivaram S; Gupta, Neerja; Roy Chowdhury, Madhumita; Kabra, Madhulika; Dave, Usha P; Bhardwaj, Ritu; Agrawal, Damyanti; Kumar, Ashok; Mohapatra, Bhagyalaxmi; Lavanya, C; Chetan, GK; Sibin, MK; Jeru, Manoj M; Srinivas, Bharath MM; Kansara, Krupa; Patel, Pal; Shah, Darshini; Vallabani, NV Srikanth; Shukla, Ritesh K; Singh, Sanjay; Kumar, Ashutosh; Dhawan, Alok; Velagaleti, Gopalrao; Mendiola, Christina; Mohamed, Gihan; Ehman, William Jr; Noronha, Vinaya; Ortega, Veronica; Manikandan, Mayakannan; Rao A K, Deva Magendhra; Munirajan, Arasambattu Kannan; Patnam, Arun Kiran; Vinu, R; Vijayalakshmi, J; Venkatachalam, P; Rani, G Usha