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

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy

扩张型心肌病中肌肉特异性核糖体的致病机制

Murphy, Michael R; Ganapathi, Mythily; Rotlevi, Esther R; Lee, Teresa M; Fisher, Joshua M; Patel, Megha V; Jayakar, Parul; Buchanan, Amanda; Rippert, Alyssa L; Ahrens-Nicklas, Rebecca C; Nair, Divya; Nayak, Shalini S; Anand, Aakanksha; Shukla, Anju; Soni, Rajesh K; Yin, Yue; Yang, Feiyue; Garcia, Enrique J; Reilly, Muredach P; Chung, Wendy K; Wu, Xuebing

Neurodevelopmental disease-causing variants in choline kinase CHKA gene couple phosphatidylcholine synthesis to oxidative stress damage and disease etiology.

胆碱激酶 CHKA 基因的神经发育疾病致病变异将磷脂酰胆碱合成与氧化应激损伤和疾病病因联系起来。

Tavasoli Mahtab, Alkandari Mariam, Dorighello Gabriel, McPhee Michael, Ridgway Neale D, Isaac Kathy, Sokolenko Stanislav, Maroofian Reza, Shukla Anju, Zaki Maha S, Houlden Henry, McMaster Christopher R

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.

范可尼贫血核心复合体蛋白 FAAP100 缺乏会导致严重的范可尼贫血

Harrison Benjamin A, Mizrahi-Powell Emma, Pappas John, Thomas Kristen, Vasishta Subrahmanya, Hebbar Shripad, Shukla Anju, Nayak Shalini S, Truong Tina K, Woroch Amy, Kharbutli Yara, Gelb Bruce D, Mintz Cassie S, Evrony Gilad D, Smogorzewska Agata

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia

248名印度骨骼发育不良患者的遗传和等位基因异质性

Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S J; Soni, J P; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V; Kamath, Nutan; Shenoy, Rathika D; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M

Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish

进一步阐明导致人类氧化磷酸化缺陷和斑马鱼早期发育异常的MRPS2缺陷

Kandettu, Amoolya; Yeole, Mayuri; Sekar, Hamsini; Garapati, Kishore; Kaur, Namanpreet; Anand, Aakanksha; Hegde, Pranavi; Nair, Karthik; Medishetti, Raghavender; Bhat, Vivekananda; Radhakrishnan, Periyasamy; Mundkur, Suneel C; Shrikiran, Hebbar A; Pandey, Akhilesh; Sevilimedu, Aarti; Chakrabarty, Sanjiban; Shukla, Anju

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

从痉挛性截瘫到婴儿神经退行性疾病:扩展与双等位基因 SPAST 变异相关的表型谱

Degoutin, Manon; Angelini, Chloé; Bar, Claire; El Khedoud, Wahiba Amer; Barnerias, Christine; Boulariah-Hadjou, Razika; Estiar, Mehrdad A; Ewenczyk, Claire; Gan-Or, Ziv; Lacombe, Didier; Lefeuvre, Claire; Majethia, Purvi; Messaoud-Khelifi, Mouna; Narayanan, Dhanya Lakshmi; Rouleau, Guy A; Suchowersky, Oksana; Shukla, Anju; Guillaud-Bataille, Marine; Stevanin, Giovanni; Goizet, Cyril

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

进一步证据表明,双等位基因NAV3变异与隐性神经发育障碍相关,该障碍伴有畸形、发育迟缓、智力障碍和行为异常。

Kakar, Naseebullah; Mascarenhas, Selinda; Ali, Asmat; Azmatullah; Ijlal Haider, Syed M; Badiger, Vaishnavi Ashok; Ghofrani, Mobina Shadman; Kruse, Nathalie; Hashmi, Sohana Nadeem; Pozojevic, Jelena; Balachandran, Saranya; Toft, Mathias; Malik, Sajid; Händler, Kristian; Fatima, Ambrin; Iqbal, Zafar; Shukla, Anju; Spielmann, Malte; Radhakrishnan, Periyasamy

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病

Radhakrishnan Periyasamy, Quadri Neha, Erger Florian, Fuhrmann Nico, Geist Otilia-Maria, Netzer Christian, Khyriem Ibakordor, Muranjan Mamta, Udani Vrajesh, Yeole Mayuri, Mascarenhas Selinda, Limaye Sanket, Siddiqui Shahyan, Upadhyai Priyanka, Shukla Anju

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome

UNC50基因中的双等位基因变异c.644-13_644-9del与先天性重症肌无力综合征相关

Shravya, Mangalore S; Purushothama, Greeshma; Radhakrishnan, Periyasamy; Hebbar, Malavika; Guruvare, Shyamala; Mathew, Mary; Bhavani, Gandham SriLakshmi; Bajaj, Shruti; Girisha, Katta M; Shukla, Anju; Nayak, Shalini S