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Page 1
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
Roberts JD, Murphy NP, Hamilton RM, Lubbers ER, James CA, Kline CF, Gollob MH, Krahn AD, Sturm AC, Musa H, El-Refaey M, Koenig S, Aneq MÅ, Hoorntje ET, Graw SL, Davies RW, Rafiq MA, Koopmann TT, Aafaqi S, Fatah M, Chiasson DA, Taylor MR, Simmons SL, Han M, van Opbergen CJ, Wold LE, Sinagra G, Mittal K, Tichnell C, Murray B, Codima A, Nazer B, Nguyen DT, Marcus FI, Sobriera N, Lodder EM, van den Berg MP, Spears DA, Robinson JF, Ursell PC, Green AK, Skanes AC, Tang AS, Gardner MJ, Hegele RA, van Veen TA, Wilde AA, Healey JS, Janssen PM, Mestroni L, van Tintelen JP, Calkins H, Judge DP, Hund TJ, Scheinman MM, Mohler PJ. Roberts JD, et al. Among authors: mittal k. J Clin Invest. 2019 Jul 2;129(8):3171-3184. doi: 10.1172/JCI125538. eCollection 2019 Jul 2. J Clin Invest. 2019. PMID: 31264976 Free PMC article.
An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.
Chatterjee D, Fatah M, Akdis D, Spears DA, Koopmann TT, Mittal K, Rafiq MA, Cattanach BM, Zhao Q, Healey JS, Ackerman MJ, Bos JM, Sun Y, Maynes JT, Brunckhorst C, Medeiros-Domingo A, Duru F, Saguner AM, Hamilton RM. Chatterjee D, et al. Among authors: mittal k. Eur Heart J. 2018 Nov 21;39(44):3932-3944. doi: 10.1093/eurheartj/ehy567. Eur Heart J. 2018. PMID: 30239670 Free PMC article.
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.
Ghidoni A, Elliott PM, Syrris P, Calkins H, James CA, Judge DP, Murray B, Barc J, Probst V, Schott JJ, Song JP, Hauer RNW, Hoorntje ET, van Tintelen JP, Schulze-Bahr E, Hamilton RM, Mittal K, Semsarian C, Behr ER, Ackerman MJ, Basso C, Parati G, Gentilini D, Kotta MC, Mayosi BM, Schwartz PJ, Crotti L. Ghidoni A, et al. Among authors: mittal k. Circ Genom Precis Med. 2021 Apr;14(2):e003097. doi: 10.1161/CIRCGEN.120.003097. Epub 2021 Feb 10. Circ Genom Precis Med. 2021. PMID: 33566628 Free PMC article.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: mittal k. Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16. Genet Med. 2021. PMID: 34400813 Free PMC article.
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB. Mir A, et al. Among authors: mittal k. Hum Genet. 2014 Aug;133(8):975-84. doi: 10.1007/s00439-014-1438-0. Epub 2014 Mar 13. Hum Genet. 2014. PMID: 24623383
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB. Ahmed I, et al. Among authors: mittal k. Hum Genet. 2014 Nov;133(11):1419-29. doi: 10.1007/s00439-014-1475-8. Epub 2014 Aug 7. Hum Genet. 2014. PMID: 25098561
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG. Law R, et al. Among authors: mittal k. Am J Hum Genet. 2014 Dec 4;95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016. Am J Hum Genet. 2014. PMID: 25480035 Free PMC article.
605 results