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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Díaz-González F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montané L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldán B, Nishimura G, Offiah AC, Faruq M, Heath KE. Díaz-González F, et al. Among authors: kumar d, kumar s. J Med Genet. 2022 Jan;59(1):28-38. doi: 10.1136/jmedgenet-2020-107177. Epub 2020 Oct 26. J Med Genet. 2022. PMID: 33106379
Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A).
Ahmad I, Goel D, Ghosh A, Kapoor H, Kumar D, Srivastava AK, Faruq M. Ahmad I, et al. Among authors: kumar d. Stem Cell Res. 2022 Oct;64:102904. doi: 10.1016/j.scr.2022.102904. Epub 2022 Aug 27. Stem Cell Res. 2022. PMID: 36055117 Free article.
Identification of FXTAS presenting with SCA 12 like phenotype in India.
Faruq M, Srivastava AK, Suroliya V, Kumar D, Garg A, Shukla G, Behari M. Faruq M, et al. Among authors: kumar d. Parkinsonism Relat Disord. 2014 Oct;20(10):1089-93. doi: 10.1016/j.parkreldis.2014.07.001. Epub 2014 Jul 17. Parkinsonism Relat Disord. 2014. PMID: 25085749
Synthetic transcription elongation factors license transcription across repressive chromatin.
Erwin GS, Grieshop MP, Ali A, Qi J, Lawlor M, Kumar D, Ahmad I, McNally A, Teider N, Worringer K, Sivasankaran R, Syed DN, Eguchi A, Ashraf M, Jeffery J, Xu M, Park PMC, Mukhtar H, Srivastava AK, Faruq M, Bradner JE, Ansari AZ. Erwin GS, et al. Among authors: kumar d. Science. 2017 Dec 22;358(6370):1617-1622. doi: 10.1126/science.aan6414. Epub 2017 Nov 30. Science. 2017. PMID: 29192133 Free PMC article.
7,359 results