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I

Inna A. Belyantseva

Manchester University NHS Foundation Trust
H指数:43
被引数:7,055

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Bi-allelic missense variants in human GPN2 result in Perrault syndrome

人类GPN2基因的双等位错义变异导致佩罗综合征

American Journal of Human Genetics
IF8.1
2026-07-010
OAAI
Smith, Thomas B.; Faridi, Rabia; Demain, Leigh A. M.; Inagaki, Sayaka; Ishibashi, Yasuko; Thomas, Huw B.; Belyantseva, Inna A.; Rea, Alessandro; Lai, King Lam; Maqbool, Arshia; Rauf, Bushra; Usmani, Muhammad Asad; Schaffer, Alejandro A.; Morell, Robert J.; Green, Andrew; Ghedia, Sondhya; Wilding, Mathilda; Hay, Robin; Sokolova, Yuliya; P. Riordan, Gavin; Schrauwen, Isabelle; Liaqat, Khurram; Riazuddin, Saima; Ahmed, Zubair M.; Chien, Wade W.; He, Langping; McGovern, Amanda; Byers, Helen; Beaman, Glenda M.; Ahmad, Wasim; Leal, Suzanne M.; Taylor, Robert W.; Riazuddin, Sheikh; O'Keefe, Raymond T.; B. Friedman, Thomas; G. Newman, William
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

作者更正：CIB2钙离子和整合素结合蛋白的变异导致Usher综合征1J型和DFNB48非综合征性耳聋

Nature Genetics
IF0
2025-08-260
PRE
Saima Riazuddin; Inna A. Belyantseva; Arnaud P. J. Giese; Kwanghyuk Lee; Artur A. Indzhykulian; Sri Pratima Nandamuri; Rizwan Yousaf; Ghanshyam P. Sinha; Sue Lee; David Terrell; Rashmi S. Hegde; Rana A. Ali; Saima Anwar; Paula B. Andrade-Elizondo; Asli Sirmaci; Leslie V. Parise; Sulman Basit; Abdul Wali; Muhammad Ayub; Muhammad Ansar; Wasim Ahmad; Shaheen N. Khan; Javed Akram; Mustafa Tekin; Sheikh Riazuddin; Tiffany Cook; Elke K. Buschbeck; Gregory I. Frolenkov; Suzanne M. Leal; Thomas B. Friedman; Zubair M. Ahmed
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault- syndrome-spectrum phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-012
OAAI
Smith, Thomas B.; Kopajtich, Robert; Demain, Leigh A. M.; Rea, Alessandro; Thomas, Huw B.; Schiff, Manuel; Beetz, Christian; Joss, Shelagh; Conway, Gerard S.; Shukla, Anju; Yeole, Mayuri; Radhakrishnan, Periyasamy; Azzouz, Hatem; Ben Chehida, Amel; Elmaleh-Berges, Monique; Glasgow, Ruth I. C.; Thompson, Kyle; Olahova, Monika; He, Langping; Jenkinson, Emma M.; Jahic, Amir; Belyantseva, Inna A.; Barzik, Melanie; Urquhart, Jill E.; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Carrera, Samantha; Blakes, Alexander J. M.; Banka, Siddharth; Yue, Wyatt W.; Ellingford, Jamie M.; Houlden, Henry; DDD Study, D. D. D.; Munro, Kevin J.; Friedman, Thomas B.; Taylor, Robert W.; Prokisch, Holger; Keefe, Raymond T.; Newman, William G.
ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points
JOURNAL OF CELL BIOLOGY
IF6.4
2022-02-178
OAAI
Krey, Jocelyn F.; Liu, Chang; Belyantseva, Inna A.; Bateschell, Michael; Dumont, Rachel A.; Goldsmith, Jennifer; Chatterjee, Paroma; Morrill, Rachel S.; Fedorov, Lev M.; Foster, Sarah; Kim, Jinkyung; Nuttall, Alfred L.; Jones, Sherri M.; Choi, Dongseok; Friedman, Thomas B.; Ricci, Anthony J.; Zhao, Bo; Barr-Gillespie, Peter G.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-11-0138
OAAI
Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodriguez-Palmero, Agusti; Schluter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; McMillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O'Keefe, Raymond T.; Newman, William G.
Variants of human CLDN9 cause mild to profound hearing loss
HUMAN MUTATION
IF3.7
2021-08-015
OA
Ramzan, Memoona; Philippe, Christophe; Belyantseva, Inna A.; Nakano, Yoko; Fenollar-Ferrer, Cristina; Tona, Risa; Yousaf, Rizwan; Basheer, Rasheeda; Imtiaz, Ayesha; Faridi, Rabia; Munir, Zunaira; Idrees, Hafiza; Salman, Midhat; Nambot, Sophie; Vitobello, Antonio; Kartti, Souad; Zarrik, Oumaima; Witmer, P. Dane; Sobreria, Nara; Ibrahimi, Azeddine; Banfi, Botond; Moutton, Sebastien; Friedman, Thomas B.; Naz, Sadaf
TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing

TRIOBP-5雕刻立体纤毛的根和僵硬的支持细胞，使听力

JCI INSIGHT
IF6.1
2019-06-2033
OA
Katsuno, Tatsuya; Belyantseva, Inna A.; Cartagena-Rivera, Alexander X.; Ohta, Keisuke; Crump, Shawn M.; Petralia, Ronald S.; Ono, Kazuya; Tona, Risa; Imtiaz, Ayesha; Rehman, Atteeq; Kiyonari, Hiroshi; Kaneko, Mari; Wang, Ya-Xian; Abe, Takaya; Ikeya, Makoto; Fenollar-Ferrer, Cristina; Riordan, Gavin P.; Wilson, Elisabeth A.; Fitzgerald, Tracy S.; Segawa, Kohei; Omori, Koichi; Ito, Juichi; Frolenkov, Gregory, I; Friedman, Thomas B.; Kitajiri, Shin-ichiro
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy
HUMAN MOLECULAR GENETICS
IF3.2
2019-01-0227
OAAI
Tona, Risa; Chen, Wenqian; Nakano, Yoko; Reyes, Laura D.; Petralia, Ronald S.; Wang, Ya-Xian; Starost, Matthew F.; Wafa, Talah T.; Morell, Robert J.; Cravedi, Kevin D.; du Hoffmann, Johann; Miyoshi, Takushi; Munasinghe, Jeeva P.; Fitzgerald, Tracy S.; Chudasama, Yogita; Omori, Koichi; Pierpaoli, Carlo; Banfi, Botond; Dong, Lijin; Belyantseva, Inna A.; Friedman, Thomas B.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human
HUMAN MOLECULAR GENETICS
IF3.2
2017-12-2344
OAAI
Imtiaz, Ayesha; Belyantseva, Inna A.; Beirl, Alisha J.; Fenollar-Ferrer, Cristina; Bashir, Rasheeda; Bukhari, Ihtisham; Bouzid, Amal; Shaukat, Uzma; Azaiez, Hela; Booth, Kevin T.; Kahrizi, Kimia; Najmabadi, Hossein; Maqsood, Azra; Wilson, Elizabeth A.; Fitzgerald, Tracy S.; Tlili, Abdelaziz; Olszewski, Rafal; Lund, Merete; Chaudhry, Taimur; Rehman, Atteeq U.; Starost, Matthew F.; Waryah, Ali M.; Hoa, Michael; Dong, Lijin; Morell, Robert J.; Smith, Richard J. H.; Riazuddin, Sheikh; Masmoudi, Saber; Kindt, Katie S.; Naz, Sadaf; Friedman, Thomas B.

研究方向

暂未获取到该数据
T
Thomas B. Friedman
H 指数:74论文数:322被引数:1.7万
S
Saima Riazuddin
H 指数:52论文数:207被引数:9,632
Z
Zubair M. Ahmed
H 指数:54论文数:203被引数:1.2万
S
Sheikh Riazuddin
H 指数:69论文数:315被引数:1.5万
G
Gregory I. Frolenkov
H 指数:39论文数:103被引数:6,165
T
Tracy S. Fitzgerald
H 指数:23论文数:41被引数:1,459
R
Robert J. Morell
H 指数:50论文数:133被引数:9,082
R
Rizwan Yousaf
H 指数:13论文数:40被引数:827
W
Wade W. Chien
H 指数:33论文数:106被引数:3,653
A
Atteeq U. Rehman
H 指数:22论文数:55被引数:1,915