Search Results - "Chamberlin, Adam"

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Molecular mechanism of Zn²⁺ inhibition of a voltage-gated proton channel.

Authors: Feng Qiu Chamberlin, Adam Watkins, Briana M. et al.

Source: Proceedings of the National Academy of Sciences of the United States of America. 10/4/2016, Vol. 113 Issue 40, pE5962-E5971. 10p.

Subjects: Zinc ions, Protons, Chemical inhibitors, Molecular models, Voltage-clamp techniques (Electrophysiology), Fluorimetry

Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Authors: Patel, Jignesh K. Rosen, Andrew M. Chamberlin, Adam et al.

Source: Neurology & Therapy. Dec2022, Vol. 11 Issue 4, p1595-1607. 13p.

Deprotonation of Lithiated Benzenes.

Authors: Bachrach, Steven M. Chamberlin, Adam C.

Source: Journal of Organic Chemistry. 3/19/2004, Vol. 69 Issue 6, p2111-2122. 12p. 8 Diagrams, 7 Charts.

Subjects: Organolithium compounds, Benzene, Aromatic compounds, Organometallic compounds, Protons, Organic chemistry

Theoretical Study of Nucleophilic Substitution at the Disulfide Bridge of Cyclo-L-cystine.

Authors: Bachrach, Steven M. Chamberlin, Adam C.

Source: Journal of Organic Chemistry. 6/13/2003, Vol. 68 Issue 12, p4743. 5p. 3 Diagrams, 3 Charts.

Subjects: Nucleophilic reactions, Sulfonates

MolecularStrategies to Achieve Selective Conductancein NaK Channel Variants.

Authors: Wang, Yibo Chamberlin, Adam C. Noskov, Sergei Yu.

Source: Journal of Physical Chemistry B. Feb2014, Vol. 118 Issue 8, p2041-2049. 9p.

Subjects: Molecular dynamics, Crystallization, Ion channels, Chemical kinetics, Coordination compounds

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Authors: Tian, Yuan Pesaran, Tina Chamberlin, Adam et al.

Source: Scientific Reports. 9/4/2019, Vol. 9 Issue 1, pN.PAG-N.PAG. 1p.

Current state of theoretical and experimental studies of the voltage-dependent anion channel (VDAC).

Authors: Noskov, Sergei Yu. Rostovtseva, Tatiana K. Chamberlin, Adam C. et al.

Source: BBA: Biomembranes. Jul2016 Part B, Vol. 1858 Issue 7B, p1778-1790. 13p.

Benzoannelation Stabilizes the dxy¹ State of Low-Spin Iron(III) Porphyrinates.

Authors: Ikeue, Takahisa Handa, Makoto Chamberlin, Adam et al.

Source: Inorganic Chemistry. 4/18/2011, Vol. 50 Issue 8, p3567-3581. 15p.

Subjects: Iron compounds, Electron paramagnetic resonance spectroscopy, Density functionals, Proton magnetic resonance spectroscopy, Porphyrins, Band gaps, Isomers

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Authors: Helbig, Katherine L. Hedrich, Ulrike B.S. Shinde, Deepali N. et al.

Source: Annals of Neurology. Oct2016, Vol. 80 Issue 4, pn/a-N.PAG. 5p.

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Authors: Scott A Hernandez F Chamberlin A et al.

Source: Genome biology [Genome Biol] 2022 Dec 22; Vol. 23 (1), pp. 266. Date of Electronic Publication: 2022 Dec 22.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Authors: Chamberlin A Huether R Machado AZ et al.

Source: Human molecular genetics [Hum Mol Genet] 2019 May 15; Vol. 28 (10), pp. 1620-1628.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Authors: Peng Y Shinde DN Alexander Valencia C et al.

Source: Human molecular genetics [Hum Mol Genet] 2018 Jun 15; Vol. 27 (12), pp. 2224.

Publication Type: Journal Article; Published Erratum

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: PubMed not MEDLINE

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Authors: Peng Y Shinde DN Valencia CA et al.

Source: Human molecular genetics [Hum Mol Genet] 2017 Dec 15; Vol. 26 (24), pp. 4937-4950.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Rehabilitating drug-induced long-QT promoters: in-silico design of hERG-neutral cisapride analogues with retained pharmacological activity.

Authors: Durdagi S Randall T Duff HJ et al.

Source: BMC pharmacology & toxicology [BMC Pharmacol Toxicol] 2014 Mar 08; Vol. 15, pp. 14. Date of Electronic Publication: 2014 Mar 08.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101590449 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-6511 (Electronic) Linking ISSN: 20506511 NLM ISO Abbreviation: BMC Pharmacol Toxicol Subsets: MEDLINE

Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.

Authors: Richardson ME Chong H Mu W et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jul; Vol. 21 (7), pp. 1669.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE