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KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development.
Gonzalez T, Tyler RC, Schilter KF, McCarrier J, Muriello M, Basel D, Reddi HV
Am J Med Genet A, e63903, 15 Oct 2024
Cited by: 0 articles | PMID: 39404449
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A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.
Udani R, Schilter KF, Tyler RC, Smith BA, Wendtandrae JL, Kappes UP, Scharer G, Lehman A, Steinraths M, Reddi HV
J Genet, 102:14, 01 Jan 2023
Cited by: 0 articles | PMID: 36814108
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Long-term retinal imaging of a case of suspected congenital rubella infection.
Langlo CS, Trotter A, Reddi HV, Schilter KF, Tyler RC, Udani R, Neitz M, Carroll J, Connor TB
Am J Ophthalmol Case Rep, 25:101241, 07 Dec 2021
Cited by: 5 articles | PMID: 34977425 | PMCID: PMC8688893
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Evolution of fold switching in a metamorphic protein.
Dishman AF, Tyler RC, Fox JC, Kleist AB, Prehoda KE, Babu MM, Peterson FC, Volkman BF
Science, 371(6524):86-90, 01 Jan 2021
Cited by: 37 articles | PMID: 33384377 | PMCID: PMC8017559
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Reply to Potential underestimation of cerebrovascular events in the PROVENGE Registry for the Observation, Collection, and Evaluation of Experience Data.
Higano CS, Armstrong AJ, Sartor O, Vogelzang NJ, Kantoff PW, McLeod DG, Pieczonka CM, Penson DF, Shore ND, Vacirca J, Concepcion RS, Tutrone RF, Nordquist LT, Quinn DI, Kassabian V, Scholz MC, Harmon M, Tyler RC, Chang NN, [...] Cooperberg MR
Cancer, 126(12):2935-2937, 10 Mar 2020
Cited by: 0 articles | PMID: 32154908 | PMCID: PMC7935468
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Real-world outcomes of sipuleucel-T treatment in PROCEED, a prospective registry of men with metastatic castration-resistant prostate cancer.
Higano CS, Armstrong AJ, Sartor AO, Vogelzang NJ, Kantoff PW, McLeod DG, Pieczonka CM, Penson DF, Shore ND, Vacirca J, Concepcion RS, Tutrone RF, Nordquist LT, Quinn DI, Kassabian V, Scholz MC, Harmon M, Tyler RC, Chang NN, [...] Cooperberg MR
Cancer, 125(23):4172-4180, 04 Sep 2019
Cited by: 39 articles | PMID: 31483485 | PMCID: PMC6856402
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Solution NMR spectroscopy of GPCRs: Residue-specific labeling strategies with a focus on ¹³C-methyl methionine labeling of the atypical chemokine receptor ACKR3.
Kleist AB, Peterson F, Tyler RC, Gustavsson M, Handel TM, Volkman BF
Methods Cell Biol, 149:259-288, 15 Nov 2018
Cited by: 6 articles | PMID: 30616824 | PMCID: PMC6941889
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PITX2 deficiency and associated human disease: insights from the zebrafish model.
Hendee KE, Sorokina EA, Muheisen SS, Reis LM, Tyler RC, Markovic V, Cuturilo G, Link BA, Semina EV
Hum Mol Genet, 27(10):1675-1695, 01 May 2018
Cited by: 32 articles | PMID: 29506241 | PMCID: PMC5932568
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Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV
Mol Vis, 22:1229-1238, 17 Oct 2016
Cited by: 8 articles | PMID: 27777502 | PMCID: PMC5070572
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A Requirement for Metamorphic Interconversion in the Antimicrobial Activity of Chemokine XCL1.
Nevins AM, Subramanian A, Tapia JL, Delgado DP, Tyler RC, Jensen DR, Ouellette AJ, Volkman BF
Biochemistry, 55(27):3784-3793, 28 Jun 2016
Cited by: 14 articles | PMID: 27305837 | PMCID: PMC6956654
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Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA, Sequeira S, Schinzel A, Semina EV
Clin Genet, 90(4):378-382, 12 Jul 2016
Cited by: 12 articles | PMID: 27272408 | PMCID: PMC5295561
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Examination of Glycosaminoglycan Binding Sites on the XCL1 Dimer.
Fox JC, Tyler RC, Peterson FC, Dyer DP, Zhang F, Linhardt RJ, Handel TM, Volkman BF
Biochemistry, 55(8):1214-1225, 17 Feb 2016
Cited by: 12 articles | PMID: 26836755 | PMCID: PMC4775286
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Engineering Metamorphic Chemokine Lymphotactin/XCL1 into the GAG-Binding, HIV-Inhibitory Dimer Conformation.
Fox JC, Tyler RC, Guzzo C, Tuinstra RL, Peterson FC, Lusso P, Volkman BF
ACS Chem Biol, 10(11):2580-2588, 02 Sep 2015
Cited by: 17 articles | PMID: 26302421 | PMCID: PMC5028202
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Electron capture dissociation and drift tube ion mobility-mass spectrometry coupled with site directed mutations provide insights into the conformational diversity of a metamorphic protein.
Harvey SR, Porrini M, Tyler RC, MacPhee CE, Volkman BF, Barran PE
Phys Chem Chem Phys, 17(16):10538-10550, 01 Apr 2015
Cited by: 12 articles | PMID: 25805055
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Structural and agonist properties of XCL2, the other member of the C-chemokine subfamily.
Fox JC, Nakayama T, Tyler RC, Sander TL, Yoshie O, Volkman BF
Cytokine, 71(2):302-311, 11 Dec 2014
Cited by: 44 articles | PMID: 25497737 | PMCID: PMC4297508
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Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.
Reis LM, Tyler RC, Semina EV
Mol Vis, 20:836-842, 13 Jun 2014
Cited by: 14 articles | PMID: 24940039 | PMCID: PMC4057250
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Dissecting the dynamic conformations of the metamorphic protein lymphotactin.
Harvey SR, Porrini M, Konijnenberg A, Clarke DJ, Tyler RC, Langridge-Smith PR, MacPhee CE, Volkman BF, Barran PE
J Phys Chem B, 118(43):12348-12359, 20 Oct 2014
Cited by: 23 articles | PMID: 25259958
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Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV
Clin Genet, 86(2):142-148, 17 Sep 2013
Cited by: 25 articles | PMID: 23889335 | PMCID: PMC4103962
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A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.
Reis LM, Tyler RC, Zori R, Burgess J, Mueller J, Semina EV
Ophthalmic Genet, 36(1):92-94, 11 Sep 2013
Cited by: 2 articles | PMID: 24024747 | PMCID: PMC4092044
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Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV
Hum Genet, 132(7):761-770, 19 Mar 2013
Cited by: 54 articles | PMID: 23508780 | PMCID: PMC3683360
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Electrostatic optimization of the conformational energy landscape in a metamorphic protein.
Tyler RC, Wieting JC, Peterson FC, Volkman BF
Biochemistry, 51(45):9067-9075, 02 Nov 2012
Cited by: 14 articles | PMID: 23102260 | PMCID: PMC3567213
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PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV
Eur J Hum Genet, 20(12):1224-1233, 09 May 2012
Cited by: 90 articles | PMID: 22569110 | PMCID: PMC3499749
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VSX2 mutations in autosomal recessive microphthalmia.
Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV
Mol Vis, 17:2527-2532, 28 Sep 2011
Cited by: 22 articles | PMID: 21976963 | PMCID: PMC3185030
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Dynamic interchanging native states of lymphotactin examined by SNAPP-MS.
Sun Q, Tyler RC, Volkman BF, Julian RR
J Am Soc Mass Spectrom, 22(3):399-407, 15 Jan 2011
Cited by: 5 articles | PMID: 21472559 | PMCID: PMC3061006
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Native-state interconversion of a metamorphic protein requires global unfolding.
Tyler RC, Murray NJ, Peterson FC, Volkman BF
Biochemistry, 50(33):7077-7079, 26 Jul 2011
Cited by: 33 articles | PMID: 21776971 | PMCID: PMC3160782
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1-25 of 56 results

1 2 3

Search life-sciences literature (45,103,589 articles, preprints and more)

Search results

KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development.

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.

Long-term retinal imaging of a case of suspected congenital rubella infection.

Evolution of fold switching in a metamorphic protein.

Reply to Potential underestimation of cerebrovascular events in the PROVENGE Registry for the Observation, Collection, and Evaluation of Experience Data.

Real-world outcomes of sipuleucel-T treatment in PROCEED, a prospective registry of men with metastatic castration-resistant prostate cancer.

Solution NMR spectroscopy of GPCRs: Residue-specific labeling strategies with a focus on ¹³C-methyl methionine labeling of the atypical chemokine receptor ACKR3.

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

A Requirement for Metamorphic Interconversion in the Antimicrobial Activity of Chemokine XCL1.

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Examination of Glycosaminoglycan Binding Sites on the XCL1 Dimer.

Engineering Metamorphic Chemokine Lymphotactin/XCL1 into the GAG-Binding, HIV-Inhibitory Dimer Conformation.

Electron capture dissociation and drift tube ion mobility-mass spectrometry coupled with site directed mutations provide insights into the conformational diversity of a metamorphic protein.

Structural and agonist properties of XCL2, the other member of the C-chemokine subfamily.

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.

Dissecting the dynamic conformations of the metamorphic protein lymphotactin.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Electrostatic optimization of the conformational energy landscape in a metamorphic protein.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

VSX2 mutations in autosomal recessive microphthalmia.

Dynamic interchanging native states of lymphotactin examined by SNAPP-MS.

Native-state interconversion of a metamorphic protein requires global unfolding.

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