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1-Benzhydryl-4-(4-chloro-phenyl-sulfonyl)piperazine.
Girisha HR, Naveen S, Vinaya K, Sridhar MA, Shashidhara Prasad J, Rangappa KS. Girisha HR, et al. Acta Crystallogr Sect E Struct Rep Online. 2008 Jan 4;64(Pt 2):o358. doi: 10.1107/S1600536807067888. Acta Crystallogr Sect E Struct Rep Online. 2008. PMID: 21201390 Free PMC article.
The title compound, C(23)H(23)ClN(2)O(2)S, was synthesized by the nucleophilic substitution of 1-benzhydrylpiperazine with 4-chloro-phenyl-sulfonyl chloride. ...The two phenyl rings make a dihedral angle of 65.9 (1). Intramolecular C-HO hydrogen bonds are pre …
The title compound, C(23)H(23)ClN(2)O(2)S, was synthesized by the nucleophilic substitution of 1-benzhydrylpiperazine with 4-c …
2,2,2-Trichloro-N-(3-nitro-phen-yl)acetamide.
Prabhu AN, Upadhyaya V, Girisha KS, Naveena CS, Guru Row TN. Prabhu AN, et al. Acta Crystallogr Sect E Struct Rep Online. 2012 Oct 1;68(Pt 10):o2832. doi: 10.1107/S1600536812036732. Epub 2012 Sep 1. Acta Crystallogr Sect E Struct Rep Online. 2012. PMID: 23125638 Free PMC article.
In the title compound, C(8)H(5)Cl(3)N(2)O(3), the dihedral angle between the nitro-phenyl ring and the acetamide group is 5.47 (6). In the crystal, N-HO and C-HO hydrogen bonds link the mol-ecules into chains running parallel to the b axis....
In the title compound, C(8)H(5)Cl(3)N(2)O(3), the dihedral angle between the nitro-phenyl ring and the acetamide group is 5.47 …
Three closely related 1-(naphthalen-2-yl)prop-2-en-1-ones: pseudosymmetry, disorder and supramoleular assembly mediated by C-H...pi and C-Br...pi interactions.
Girisha M, Sagar BK, Yathirajan HS, Rathore RS, Glidewell C. Girisha M, et al. Acta Crystallogr C Struct Chem. 2017 Feb 1;73(Pt 2):115-120. doi: 10.1107/S205322961700105X. Epub 2017 Jan 26. Acta Crystallogr C Struct Chem. 2017. PMID: 28157129
In 1-(naphthalen-2-yl)-3-(thiophen-2-yl)prop-2-en-1-one, C(17)H(12)OS, (III), the thiophene unit is disordered over two sets of atomic sites, with occupancies of 0.780 (3) and 0.220 (3), which are related by a near 180 rotation of the thiophene unit about its exocyc …
In 1-(naphthalen-2-yl)-3-(thiophen-2-yl)prop-2-en-1-one, C(17)H(12)OS, (III), the thiophene unit is disordered over two sets o …
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A. Somashekar PH, et al. Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28. Clin Genet. 2021. PMID: 33463720 Free PMC article. Review.
Chromosomal microarray returned normal results. Exome sequencing revealed a homozygous missense variant, c.104C > T p.(Ser35Leu) in EXOSC1 (NM_016046.5) as the possible candidate. ...Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and …
Chromosomal microarray returned normal results. Exome sequencing revealed a homozygous missense variant, c.104C > T p.(Ser35Leu) i …
Eight Schiff bases derived from various salicylaldehydes: phenol-imine and keto-amine forms, conformational disorder, and supramolecular assembly in one and two dimensions.
Girisha M, Sagar BK, Yathirajan HS, Rathore RS, Kaur M, Jasinski JP, Glidewell C. Girisha M, et al. Acta Crystallogr C Struct Chem. 2018 Oct 1;74(Pt 10):1094-1104. doi: 10.1107/S2053229618012287. Epub 2018 Sep 7. Acta Crystallogr C Struct Chem. 2018. PMID: 30284974
C(19)H(18)BrN(3)O(5)S, (II), the isoxazole rings adopt different orientations relative to the rest of the molecules, despite the additional substituents in (II) being in the aryl ring remote from the isoxazole unit. The molecules of both (E)-4-bromo-2-[(2-hydroxyphe …
C(19)H(18)BrN(3)O(5)S, (II), the isoxazole rings adopt different orientations relative to the rest of the molecules, despite t …
Crystal structures of (E)-1-{3-[(5-fluoro-2-hy-droxy-benzyl-idene)amino]-phen-yl}ethanone and of a fourth polymorph of (E)-1-{3-[(2-hy-droxy-3-meth-oxy-benzyl-idene)amino]-phen-yl}ethanone.
Girisha M, Yathirajan HS, Rathore RS, Glidewell C. Girisha M, et al. Acta Crystallogr E Crystallogr Commun. 2017 Nov 7;73(Pt 12):1835-1839. doi: 10.1107/S2056989017015985. eCollection 2017 Dec 1. Acta Crystallogr E Crystallogr Commun. 2017. PMID: 29250398 Free PMC article.
In the mol-ecules of both (E)-1-{3-[(5-fluoro-2-hy-droxy-benzyl-idene)amino]-phen-yl}ethanone, C(15)H(12)FNO(2), (I), and (E)-1-{3-[(2-hy-droxy-3-meth-oxy-benzyl-idene)amino]-phen-yl}ethanone, C(16)H(15)NO(3), (II), which crystallizes with Z' = 2 in sp …
In the mol-ecules of both (E)-1-{3-[(5-fluoro-2-hy-droxy-benzyl-idene)amino]-phen-yl}ethanone, C(15)H(12)FNO(2), (I), and (E)- …
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Majethia P, Somashekar PH, Hebbar M, Kadavigere R, Praveen BK, Girisha KM, Shukla A. Majethia P, et al. Clin Genet. 2021 Aug;100(2):201-205. doi: 10.1111/cge.13970. Epub 2021 May 3. Clin Genet. 2021. PMID: 33890291 Free PMC article.
The glycine cleavage system H protein (GCSH) is an integral part of the glycine cleavage system with its additional involvement in the synthesis and transport of lipoic acid. ...We herein report three individuals from two unrelated Indian families with clinical, biochemica …
The glycine cleavage system H protein (GCSH) is an integral part of the glycine cleavage system with its additional involvement in th …
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707087 Free PMC article.
Exome sequencing revealed that each affected person was homozygous for one of two different rare variants (c.470G>T [p.Cys157Phe] or c.469T>C [p.Cys157Arg]) affecting the same residue of myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF) …
Exome sequencing revealed that each affected person was homozygous for one of two different rare variants (c.470G>T [p.Cys157Phe] …
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Srivastava A, et al. Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5. Eur J Hum Genet. 2018. PMID: 29976978 Free PMC article.
Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debili …
Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.( …
Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
Majethia P, Girisha KM. Majethia P, et al. Am J Med Genet A. 2021 May;185(5):1602-1605. doi: 10.1002/ajmg.a.62115. Epub 2021 Feb 8. Am J Med Genet A. 2021. PMID: 33559318
Till date, 19 families are reported with WRS due to variants in POLR3A. Here, we describe an 18 months old male child with biallelic c.2005C>T p.(Arg669Ter) and c.1771-7C>G variant in heterozygous state identified by exome sequencing in POLR3A leading to WRS p …
Till date, 19 families are reported with WRS due to variants in POLR3A. Here, we describe an 18 months old male child with biallelic c …
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