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Showing 13 to 24 of 107 entries
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Mutations and variants of ONECUT1 in diabetes.

Nature medicine

Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A.
PMID: 34663987
Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. Epub 2021 Oct 18.

Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrelated patients, characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia,...

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Philippi A, Heller S, Costa IG, et al. Mutations and variants of ONECUT1 in diabetes. Nat Med. 2021;27(11):1928-1940doi: 10.1038/s41591-021-01502-7.
Philippi, A., Heller, S., Costa, I. G., Senée, V., Breunig, M., Li, Z., Kwon, G., Russell, R., Illing, A., Lin, Q., Hohwieler, M., Degavre, A., Zalloua, P., Liebau, S., Schuster, M., Krumm, J., Zhang, X., Geusz, R., Benthuysen, J. R., Wang, A., Chiou, J., Gaulton, K., Neubauer, H., Simon, E., Klein, T., Wagner, M., Nair, G., Besse, C., Dandine-Roulland, C., Olaso, R., Deleuze, J. F., Kuster, B., Hebrok, M., Seufferlein, T., Sander, M., Boehm, B. O., Oswald, F., Nicolino, M., Julier, C., & Kleger, A. (2021). Mutations and variants of ONECUT1 in diabetes. Nature medicine, 27(11), 1928-1940. https://doi.org/10.1038/s41591-021-01502-7
Philippi, Anne, et al. "Mutations and variants of ONECUT1 in diabetes." Nature medicine vol. 27,11 (2021): 1928-1940. doi: https://doi.org/10.1038/s41591-021-01502-7
Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A. Mutations and variants of ONECUT1 in diabetes. Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. Epub 2021 Oct 18. PMID: 34663987.
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A description of novel variants and review of phenotypic spectrum in .

Cold Spring Harbor molecular case studies

Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG, Phillips JA, Komatsu M, Sweetser DA.
PMID: 33811063
Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3). doi: 10.1101/mcs.a005827. Print 2021 Jun.

Early infantile epileptic encephalopathy-44 (EIEE44, MIM: 617132) is a previously described condition resulting from biallelic variants in

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Briere LC, Walker MA, High FA, et al. A description of novel variants and review of phenotypic spectrum in . Cold Spring Harb Mol Case Stud. 2021;7(3)doi: 10.1101/mcs.a005827.
Briere, L. C., Walker, M. A., High, F. A., Cooper, C., Rogers, C. A., Callahan, C. J., Ishimura, R., Ichimura, Y., Caruso, P. A., Sharma, N., Brokamp, E., Koziura, M. E., Mohammad, S. S., Dale, R. C., Riley, L. G., Phillips, J. A., Komatsu, M., & Sweetser, D. A. (2021). A description of novel variants and review of phenotypic spectrum in . Cold Spring Harbor molecular case studies, 7(3), . https://doi.org/10.1101/mcs.a005827
Briere, Lauren C, et al. "A description of novel variants and review of phenotypic spectrum in ." Cold Spring Harbor molecular case studies vol. 7,3 (2021). doi: https://doi.org/10.1101/mcs.a005827
Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG, Phillips JA, Komatsu M, Sweetser DA. A description of novel variants and review of phenotypic spectrum in . Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3). doi: 10.1101/mcs.a005827. Print 2021 Jun. PMID: 33811063; PMCID: PMC8208045.
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Serum FGF-21, GDF-15, and blood mtDNA copy number are not biomarkers of Parkinson disease.

Neurology. Clinical practice

Davis RL, Wong SL, Carling PJ, Payne T, Sue CM, Bandmann O.
PMID: 32190419
Neurol Clin Pract. 2020 Feb;10(1):40-46. doi: 10.1212/CPJ.0000000000000702.

BACKGROUND: Strong evidence of mitochondrial dysfunction exists for both familial and sporadic Parkinson disease (PD). A simple test, reliably identifying mitochondrial dysfunction, could be important for future stratified medicine trials in PD. We previously undertook a comparison of serum...

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Davis RL, Wong SL, Carling PJ, et al. Serum FGF-21, GDF-15, and blood mtDNA copy number are not biomarkers of Parkinson disease. Neurol Clin Pract. 2020;10(1):40-46doi: 10.1212/CPJ.0000000000000702.
Davis, R. L., Wong, S. L., Carling, P. J., Payne, T., Sue, C. M., & Bandmann, O. (2020). Serum FGF-21, GDF-15, and blood mtDNA copy number are not biomarkers of Parkinson disease. Neurology. Clinical practice, 10(1), 40-46. https://doi.org/10.1212/CPJ.0000000000000702
Davis, Ryan L, et al. "Serum FGF-21, GDF-15, and blood mtDNA copy number are not biomarkers of Parkinson disease." Neurology. Clinical practice vol. 10,1 (2020): 40-46. doi: https://doi.org/10.1212/CPJ.0000000000000702
Davis RL, Wong SL, Carling PJ, Payne T, Sue CM, Bandmann O. Serum FGF-21, GDF-15, and blood mtDNA copy number are not biomarkers of Parkinson disease. Neurol Clin Pract. 2020 Feb;10(1):40-46. doi: 10.1212/CPJ.0000000000000702. PMID: 32190419; PMCID: PMC7057070.
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A comparison of methods to identify antenatal substance use within electronic health records.

American journal of obstetrics & gynecology MFM

Tang LA, Jeffery AD, Leech AA, Osmundson SS, Schirle L, Phillippi JC.
PMID: 34808402
Am J Obstet Gynecol MFM. 2021 Nov 19;4(2):100535. doi: 10.1016/j.ajogmf.2021.100535. Epub 2021 Nov 19.

No abstract available.

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Tang LA, Jeffery AD, Leech AA, et al. A comparison of methods to identify antenatal substance use within electronic health records. Am J Obstet Gynecol MFM. 2021;4(2):100535doi: 10.1016/j.ajogmf.2021.100535.
Tang, L. A., Jeffery, A. D., Leech, A. A., Osmundson, S. S., Schirle, L., & Phillippi, J. C. (2021). A comparison of methods to identify antenatal substance use within electronic health records. American journal of obstetrics & gynecology MFM, 4(2), 100535. https://doi.org/10.1016/j.ajogmf.2021.100535
Tang, Leigh Anne, et al. "A comparison of methods to identify antenatal substance use within electronic health records." American journal of obstetrics & gynecology MFM vol. 4,2 (2021): 100535. doi: https://doi.org/10.1016/j.ajogmf.2021.100535
Tang LA, Jeffery AD, Leech AA, Osmundson SS, Schirle L, Phillippi JC. A comparison of methods to identify antenatal substance use within electronic health records. Am J Obstet Gynecol MFM. 2021 Nov 19;4(2):100535. doi: 10.1016/j.ajogmf.2021.100535. Epub 2021 Nov 19. PMID: 34808402.
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A comparison of methods to identify antenatal substance use within electronic health records.

American journal of obstetrics & gynecology MFM

Tang LA, Jeffery AD, Leech AA, Osmundson SS, Schirle L, Phillippi JC.
PMID: 34808402
Am J Obstet Gynecol MFM. 2021 Nov 19;4(2):100535. doi: 10.1016/j.ajogmf.2021.100535. Epub 2021 Nov 19.

No abstract available.

Cite
Tang LA, Jeffery AD, Leech AA, et al. A comparison of methods to identify antenatal substance use within electronic health records. Am J Obstet Gynecol MFM. 2021;4(2):100535doi: 10.1016/j.ajogmf.2021.100535.
Tang, L. A., Jeffery, A. D., Leech, A. A., Osmundson, S. S., Schirle, L., & Phillippi, J. C. (2021). A comparison of methods to identify antenatal substance use within electronic health records. American journal of obstetrics & gynecology MFM, 4(2), 100535. https://doi.org/10.1016/j.ajogmf.2021.100535
Tang, Leigh Anne, et al. "A comparison of methods to identify antenatal substance use within electronic health records." American journal of obstetrics & gynecology MFM vol. 4,2 (2021): 100535. doi: https://doi.org/10.1016/j.ajogmf.2021.100535
Tang LA, Jeffery AD, Leech AA, Osmundson SS, Schirle L, Phillippi JC. A comparison of methods to identify antenatal substance use within electronic health records. Am J Obstet Gynecol MFM. 2021 Nov 19;4(2):100535. doi: 10.1016/j.ajogmf.2021.100535. Epub 2021 Nov 19. PMID: 34808402.
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A comparison of methods to identify antenatal substance use within electronic health records.

American journal of obstetrics & gynecology MFM

Tang LA, Jeffery AD, Leech AA, Osmundson SS, Schirle L, Phillippi JC.
PMID: 34808402
Am J Obstet Gynecol MFM. 2021 Nov 19;4(2):100535. doi: 10.1016/j.ajogmf.2021.100535. Epub 2021 Nov 19.

No abstract available.

Cite
Tang LA, Jeffery AD, Leech AA, et al. A comparison of methods to identify antenatal substance use within electronic health records. Am J Obstet Gynecol MFM. 2021;4(2):100535doi: 10.1016/j.ajogmf.2021.100535.
Tang, L. A., Jeffery, A. D., Leech, A. A., Osmundson, S. S., Schirle, L., & Phillippi, J. C. (2021). A comparison of methods to identify antenatal substance use within electronic health records. American journal of obstetrics & gynecology MFM, 4(2), 100535. https://doi.org/10.1016/j.ajogmf.2021.100535
Tang, Leigh Anne, et al. "A comparison of methods to identify antenatal substance use within electronic health records." American journal of obstetrics & gynecology MFM vol. 4,2 (2021): 100535. doi: https://doi.org/10.1016/j.ajogmf.2021.100535
Tang LA, Jeffery AD, Leech AA, Osmundson SS, Schirle L, Phillippi JC. A comparison of methods to identify antenatal substance use within electronic health records. Am J Obstet Gynecol MFM. 2021 Nov 19;4(2):100535. doi: 10.1016/j.ajogmf.2021.100535. Epub 2021 Nov 19. PMID: 34808402.
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Dietary supplement use by individuals living with and beyond breast, prostate, and colorectal cancer: A cross-sectional survey.

Cancer

Conway RE, Rigler FV, Croker HA, Lally PJ, Beeken RJ, Fisher A.
PMID: 34927236
Cancer. 2021 Dec 20; doi: 10.1002/cncr.34055. Epub 2021 Dec 20.

BACKGROUND: Dietary supplements (DSs) are not recommended for the prevention of cancer recurrence. Although DS use is common in individuals living with and beyond cancer, its associations with beliefs about reduced cancer recurrence risk and demographic and health behaviors...

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Conway RE, Rigler FV, Croker HA, et al. Dietary supplement use by individuals living with and beyond breast, prostate, and colorectal cancer: A cross-sectional survey. Cancer. 2021;doi: 10.1002/cncr.34055.
Conway, R. E., Rigler, F. V., Croker, H. A., Lally, P. J., Beeken, R. J., & Fisher, A. (2021). Dietary supplement use by individuals living with and beyond breast, prostate, and colorectal cancer: A cross-sectional survey. Cancer, . https://doi.org/10.1002/cncr.34055
Conway, Rana E, et al. "Dietary supplement use by individuals living with and beyond breast, prostate, and colorectal cancer: A cross-sectional survey." Cancer vol. (2021). doi: https://doi.org/10.1002/cncr.34055
Conway RE, Rigler FV, Croker HA, Lally PJ, Beeken RJ, Fisher A. Dietary supplement use by individuals living with and beyond breast, prostate, and colorectal cancer: A cross-sectional survey. Cancer. 2021 Dec 20; doi: 10.1002/cncr.34055. Epub 2021 Dec 20. PMID: 34927236.
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Foraging conditions for breeding penguins improve with distance from colony and progression of the breeding season at the South Orkney Islands.

Movement ecology

Phillips JA, Fayet AL, Guilford T, Manco F, Warwick-Evans V, Trathan P.
PMID: 33947478
Mov Ecol. 2021 May 04;9(1):22. doi: 10.1186/s40462-021-00261-x.

BACKGROUND: According to central place foraging theory, animals will only increase the distance of their foraging trips if more distant prey patches offer better foraging opportunities. Thus, theory predicts that breeding seabirds in large colonies could create a zone...

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Phillips JA, Fayet AL, Guilford T, et al. Foraging conditions for breeding penguins improve with distance from colony and progression of the breeding season at the South Orkney Islands. Mov Ecol. 2021;9(1):22doi: 10.1186/s40462-021-00261-x.
Phillips, J. A., Fayet, A. L., Guilford, T., Manco, F., Warwick-Evans, V., & Trathan, P. (2021). Foraging conditions for breeding penguins improve with distance from colony and progression of the breeding season at the South Orkney Islands. Movement ecology, 9(1), 22. https://doi.org/10.1186/s40462-021-00261-x
Phillips, Jessica Ann, et al. "Foraging conditions for breeding penguins improve with distance from colony and progression of the breeding season at the South Orkney Islands." Movement ecology vol. 9,1 (2021): 22. doi: https://doi.org/10.1186/s40462-021-00261-x
Phillips JA, Fayet AL, Guilford T, Manco F, Warwick-Evans V, Trathan P. Foraging conditions for breeding penguins improve with distance from colony and progression of the breeding season at the South Orkney Islands. Mov Ecol. 2021 May 04;9(1):22. doi: 10.1186/s40462-021-00261-x. PMID: 33947478; PMCID: PMC8094539.
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Acetylcholine Regulates Pulmonary Pathology During Viral Infection and Recovery.

ImmunoTargets and therapy

Horkowitz AP, Schwartz AV, Alvarez CA, Herrera EB, Thoman ML, Chatfield DA, Osborn KG, Feuer R, George UZ, Phillips JA.
PMID: 33365281
Immunotargets Ther. 2020 Dec 17;9:333-350. doi: 10.2147/ITT.S279228. eCollection 2020.

INTRODUCTION: This study was designed to explore the role of acetylcholine (ACh) in pulmonary viral infection and recovery. Inflammatory control is critical to recovery from respiratory viral infection. ACh secreted from non-neuronal sources, including lymphocytes, plays an important, albeit...

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Horkowitz AP, Schwartz AV, Alvarez CA, et al. Acetylcholine Regulates Pulmonary Pathology During Viral Infection and Recovery. Immunotargets Ther. 2020;9:333-350doi: 10.2147/ITT.S279228.
Horkowitz, A. P., Schwartz, A. V., Alvarez, C. A., Herrera, E. B., Thoman, M. L., Chatfield, D. A., Osborn, K. G., Feuer, R., George, U. Z., & Phillips, J. A. (2020). Acetylcholine Regulates Pulmonary Pathology During Viral Infection and Recovery. ImmunoTargets and therapy, 9333-350. https://doi.org/10.2147/ITT.S279228
Horkowitz, Alexander P, et al. "Acetylcholine Regulates Pulmonary Pathology During Viral Infection and Recovery." ImmunoTargets and therapy vol. 9 (2020): 333-350. doi: https://doi.org/10.2147/ITT.S279228
Horkowitz AP, Schwartz AV, Alvarez CA, Herrera EB, Thoman ML, Chatfield DA, Osborn KG, Feuer R, George UZ, Phillips JA. Acetylcholine Regulates Pulmonary Pathology During Viral Infection and Recovery. Immunotargets Ther. 2020 Dec 17;9:333-350. doi: 10.2147/ITT.S279228. eCollection 2020. PMID: 33365281; PMCID: PMC7751717.
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Sumatriptan Anaphylaxis: A Headache of an Allergy.

Neurology. Clinical practice

Lee AYS, Pucar PA, Smith AJF.
PMID: 34484909
Neurol Clin Pract. 2021 Jun;11(3):e344-e346. doi: 10.1212/CPJ.0000000000000848.

No abstract available.

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Lee AYS, Pucar PA, Smith AJF. Sumatriptan Anaphylaxis: A Headache of an Allergy. Neurol Clin Pract. 2021;11(3):e344-e346doi: 10.1212/CPJ.0000000000000848.
Lee, A. Y. S., Pucar, P. A., & Smith, A. J. F. (2021). Sumatriptan Anaphylaxis: A Headache of an Allergy. Neurology. Clinical practice, 11(3), e344-e346. https://doi.org/10.1212/CPJ.0000000000000848
Lee, Adrian Y S, et al. "Sumatriptan Anaphylaxis: A Headache of an Allergy." Neurology. Clinical practice vol. 11,3 (2021): e344-e346. doi: https://doi.org/10.1212/CPJ.0000000000000848
Lee AYS, Pucar PA, Smith AJF. Sumatriptan Anaphylaxis: A Headache of an Allergy. Neurol Clin Pract. 2021 Jun;11(3):e344-e346. doi: 10.1212/CPJ.0000000000000848. PMID: 34484909; PMCID: PMC8382363.
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Phase 1 Study of Molibresib (GSK525762), a Bromodomain and Extra-Terminal Domain Protein Inhibitor, in NUT Carcinoma and Other Solid Tumors.

JNCI cancer spectrum

Piha-Paul SA, Hann CL, French CA, Cousin S, Braña I, Cassier PA, Moreno V, de Bono JS, Harward SD, Ferron-Brady G, Barbash O, Wyce A, Wu Y, Horner T, Annan M, Parr NJ, Prinjha RK, Carpenter CL, Hilton J, Hong DS, Haas NB, Markowski MC, Dhar A, O'Dwyer PJ, Shapiro GI.
PMID: 32328561
JNCI Cancer Spectr. 2019 Nov 06;4(2):pkz093. doi: 10.1093/jncics/pkz093. eCollection 2020 Apr.

BACKGROUND: Bromodomain and extra-terminal domain proteins are promising epigenetic anticancer drug targets. This first-in-human study evaluated the safety, recommended phase II dose, pharmacokinetics, pharmacodynamics, and preliminary antitumor activity of the bromodomain and extra-terminal domain inhibitor molibresib (GSK525762) in patients...

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Piha-Paul SA, Hann CL, French CA, et al. Phase 1 Study of Molibresib (GSK525762), a Bromodomain and Extra-Terminal Domain Protein Inhibitor, in NUT Carcinoma and Other Solid Tumors. JNCI Cancer Spectr. 2019;4(2):pkz093doi: 10.1093/jncics/pkz093.
Piha-Paul, S. A., Hann, C. L., French, C. A., Cousin, S., Braña, I., Cassier, P. A., Moreno, V., de Bono, J. S., Harward, S. D., Ferron-Brady, G., Barbash, O., Wyce, A., Wu, Y., Horner, T., Annan, M., Parr, N. J., Prinjha, R. K., Carpenter, C. L., Hilton, J., Hong, D. S., Haas, N. B., Markowski, M. C., Dhar, A., O'Dwyer, P. J., & Shapiro, G. I. (2020). Phase 1 Study of Molibresib (GSK525762), a Bromodomain and Extra-Terminal Domain Protein Inhibitor, in NUT Carcinoma and Other Solid Tumors. JNCI cancer spectrum, 4(2), pkz093. https://doi.org/10.1093/jncics/pkz093
Piha-Paul, Sarina A, et al. "Phase 1 Study of Molibresib (GSK525762), a Bromodomain and Extra-Terminal Domain Protein Inhibitor, in NUT Carcinoma and Other Solid Tumors." JNCI cancer spectrum vol. 4,2 (2020): pkz093. doi: https://doi.org/10.1093/jncics/pkz093
Piha-Paul SA, Hann CL, French CA, Cousin S, Braña I, Cassier PA, Moreno V, de Bono JS, Harward SD, Ferron-Brady G, Barbash O, Wyce A, Wu Y, Horner T, Annan M, Parr NJ, Prinjha RK, Carpenter CL, Hilton J, Hong DS, Haas NB, Markowski MC, Dhar A, O'Dwyer PJ, Shapiro GI. Phase 1 Study of Molibresib (GSK525762), a Bromodomain and Extra-Terminal Domain Protein Inhibitor, in NUT Carcinoma and Other Solid Tumors. JNCI Cancer Spectr. 2019 Nov 06;4(2):pkz093. doi: 10.1093/jncics/pkz093. eCollection 2020 Apr. PMID: 32328561; PMCID: PMC7165800.
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FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION.

Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc

Strakowski SM, Butler MG, Cheek JW, Moore WT, Netterville JL, Phillips JA.
PMID: 28163373
Dysmorphol Clin Genet. 1988;2:9-12.

We report a family with congenital anterior laryngeal web in three males and two females in three successive generations. The maternal grandmother of our proband had a spontaneous occurrence of the web, which subsequently was transmitted in a probable...

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Strakowski SM, Butler MG, Cheek JW, et al. FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION. Dysmorphol Clin Genet. 1988;2:9-12
Strakowski, S. M., Butler, M. G., Cheek, J. W., Moore, W. T., Netterville, J. L., & Phillips, J. A. (1988). FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION. Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc, 29-12.
Strakowski, Stephen M, et al. "FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION." Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc vol. 2 (1988): 9-12.
Strakowski SM, Butler MG, Cheek JW, Moore WT, Netterville JL, Phillips JA. FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION. Dysmorphol Clin Genet. 1988;2:9-12. PMID: 28163373; PMCID: PMC5289452.
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