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

Y chromosomal noncoding RNAs regulate autosomal gene expression via piRNAs in mouse testis

染色体非编码 RNA 通过 piRNA 调控小鼠睾丸中的常染色体基因表达

Hemakumar M Reddy #, Rupa Bhattacharya #, Shrish Tiwari, Kankadeb Mishra, Pranatharthi Annapurna, Zeenath Jehan, Nissankararao Mary Praveena, Jomini Liza Alex, Vishnu M Dhople, Lalji Singh, Mahadevan Sivaramakrishnan, Anurag Chaturvedi, Nandini Rangaraj, Thomas Michael Shiju, Badanapuram Sreedevi, S

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

通过对基因组外显子组数据进行计算机分析,鉴定出ATP2A1基因中的致病突变,该突变涉及隐蔽的异常剪接位点。

Bruels, Christine C; Li, Chengcheng; Mendoza, Tonatiuh; Khan, Jamillah; Reddy, Hemakumar M; Estrella, Elicia A; Ghosh, Partha S; Darras, Basil T; Lidov, Hart G W; Pacak, Christina A; Kunkel, Louis M; Modave, François; Draper, Isabelle; Kang, Peter B

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan

PYROXD1 缺乏对细胞呼吸的影响以及与沙特阿拉伯和苏丹肢带型肌营养不良症基因分析的相关性

Madhurima Saha, Hemakumar M Reddy, Mustafa A Salih, Elicia Estrella, Michael D Jones, Satomi Mitsuhashi, Kyung-Ah Cho, Silveli Suzuki-Hatano, Skylar A Rizzo, Muddathir H Hamad, Maowia M Mukhtar, Ahlam A Hamed, Maha A Elseed, Monkol Lek, Elise Valkanas, Daniel G MacArthur, Louis M Kunkel, Christina A

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

利用转录组测序改进孟德尔遗传病的基因诊断

Cummings, Beryl B; Marshall, Jamie L; Tukiainen, Taru; Lek, Monkol; Donkervoort, Sandra; Foley, A Reghan; Bolduc, Veronique; Waddell, Leigh B; Sandaradura, Sarah A; O'Grady, Gina L; Estrella, Elicia; Reddy, Hemakumar M; Zhao, Fengmei; Weisburd, Ben; Karczewski, Konrad J; O'Donnell-Luria, Anne H; Birnbaum, Daniel; Sarkozy, Anna; Hu, Ying; Gonorazky, Hernan; Claeys, Kristl; Joshi, Himanshu; Bournazos, Adam; Oates, Emily C; Ghaoui, Roula; Davis, Mark R; Laing, Nigel G; Topf, Ana; Kang, Peter B; Beggs, Alan H; North, Kathryn N; Straub, Volker; Dowling, James J; Muntoni, Francesco; Clarke, Nigel F; Cooper, Sandra T; Bönnemann, Carsten G; MacArthur, Daniel G

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions

MEGF10 缺乏对成肌细胞功能和 Notch1 相互作用的影响

Madhurima Saha, Satomi Mitsuhashi, Michael D Jones, Kelsey Manko, Hemakumar M Reddy, Christine C Bruels, Kyung-Ah Cho, Christina A Pacak, Isabelle Draper, Peter B Kang

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

美国外显子组测序在识别肢带型肌营养不良症致病突变方面的敏感性

Reddy, Hemakumar M; Cho, Kyung-Ah; Lek, Monkol; Estrella, Elicia; Valkanas, Elise; Jones, Michael D; Mitsuhashi, Satomi; Darras, Basil T; Amato, Anthony A; Lidov, Hart Gw; Brownstein, Catherine A; Margulies, David M; Yu, Timothy W; Salih, Mustafa A; Kunkel, Louis M; MacArthur, Daniel G; Kang, Peter B

Novel noncoding RNA from human Y distal heterochromatic block (Yq12) generates testis-specific chimeric CDC2L2

来自人类Y染色体远端异染色质区段(Yq12)的新型非编码RNA可产生睾丸特异性嵌合CDC2L2

Jehan, Zeenath; Vallinayagam, Sambandam; Tiwari, Shrish; Pradhan, Suman; Singh, Lalji; Suresh, Amritha; Reddy, Hemakumar M; Ahuja, Y R; Jesudasan, Rachel A

Chromosome 11 aneusomy in esophageal cancers and precancerous lesions--an early event in neoplastic transformation: an interphase fluorescence in situ hybridization study from south India

食管癌和癌前病变中的11号染色体非整倍体——肿瘤转化早期事件:来自印度南部的一项间期荧光原位杂交研究

Mohan, Vasavi; Ponnala, Shivani; Reddy, Hemakumar M; Sistla, Radha; Jesudasan, Rachel A; Ahuja, Yog Raj; Hasan, Qurratulain