Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Rosemary Bauer"'
Autor:
Katherine W. Timothy, Rosemary Bauer, Kerry A. Larkin, Edward P. Walsh, Dominic J. Abrams, Cecilia Gonzalez Corcia, Alexandra Valsamakis, Geoffrey S. Pitt, Ivy E. Dick, Andy Golden
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-21 (2024)
Abstract Background Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was characterized by a cardiac presentation of long QT syndrome and syndactyly of the fingers and/or toes, all a
Externí odkaz:
https://doaj.org/article/94f4b108add54d16bf2424766bb1fc70
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 8 (2021)
Although nearly 10% of Americans suffer from a rare disease, clinical progress in individual rare diseases is severely compromised by lack of attention and research resources compared to common diseases. It is thus imperative to investigate these dis
Externí odkaz:
https://doaj.org/article/3ad6cc3a3b2543abb0f50730e46399c1
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Timothy Syndrome (TS) (OMIM #601005) is a rare autosomal dominant syndrome caused by variants in CACNA1C, which encodes the α1C subunit of the voltage-gated calcium channel Cav1.2. TS is classically caused by only a few different genetic changes and
Externí odkaz:
https://doaj.org/article/1f02af8404044061aead512304cde8f8
Autor:
Julie A Fischer, Tanner O Monroe, Lorenzo L Pesce, Konrad T Sawicki, Mattia Quattrocelli, Rosemary Bauer, Samuel D Kearns, Matthew J Wolf, Megan J Puckelwartz, Elizabeth M McNally
Publikováno v:
Human molecular genetics.
Genetic variation in genes regulating metabolism may be advantageous in some settings but not others. The non-failing adult heart relies heavily on fatty acids as a fuel substrate and source of ATP. In contrast, the failing heart favors glucose as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb08ce51acbd12ff4f7829dd42c9a599
https://pubmed.ncbi.nlm.nih.gov/35904451
https://pubmed.ncbi.nlm.nih.gov/35904451
Distinct mechanoreceptor pezo-1 isoforms modulate food intake in the nematode Caenorhabditis elegans
Autor:
Kiley Hughes, Ashka Shah, Xiaofei Bai, Jessica Adams, Rosemary Bauer, Janelle Jackson, Emily Harris, Alyson Ficca, Ploy Freebairn, Shawn Mohammed, Eliana M Fernández, Chance Bainbridge, Marcela Brocco, Wolfgang Stein, Andrés G Vidal-Gadea
Publikováno v:
G3 (Bethesda)
Two PIEZO mechanosensitive cation channels, PIEZO1 and PIEZO2, have been identified in mammals, where they are involved in numerous sensory processes. While structurally similar, PIEZO channels are expressed in distinct tissues and exhibit unique pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d5b7d34d61e490f1d50096a401e393
https://europepmc.org/articles/PMC9210275/
https://europepmc.org/articles/PMC9210275/
Autor:
Mattia Quattrocelli, Samuel Kearns, Elizabeth M. McNally, Lorenzo L. Pesce, Rosemary Bauer, Megan J. Puckelwartz, Julie A Fischer, Matthew J. Wolf
Publikováno v:
Circulation Research. 129
Background: Cardiomyopathy is a highly heritable disorder that carries a significant risk for heart failure and arrhythmias. Most inherited cardiomyopathies are characterized by variable penetrance and expressivity, which in part arises from addition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee6ff77fc30e90db8b2c3eaa4e8e9d05
https://doi.org/10.1161/res.129.suppl_1.p397
https://doi.org/10.1161/res.129.suppl_1.p397
Publikováno v:
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 14, Iss 8 (2021)
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 14, Iss 8 (2021)
Although nearly 10% of Americans suffer from a rare disease, clinical progress in individual rare diseases is severely compromised by lack of attention and research resources compared to common diseases. It is thus imperative to investigate these dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd9789e0b63d5b875277280afd15f9d
https://doi.org/10.1242/dmm.049010
https://doi.org/10.1242/dmm.049010
Distinct mechanoreceptor pezo-1 isoforms modulate food intake in the nematode Caenorhabditis elegans
Autor:
Shawn Mohammed, Marcela Adriana Brocco, Kiley Hughes, Alyson Ficca, Andrés G. Vidal-Gadea, Ploy Freebairn, Ashka Shah, Rosemary Bauer, Jessica Adams, Emily Harris, Wolfgang Stein, Xiaofei Bai, Chance Bainbridge, Janelle Jackson, Eliana M Fernández
Two PIEZO mechanosensitive cation channels, PIEZO1 and PIEZO2, have been identified in mammals, where they are involved in numerous sensory processes. While structurally similar, PIEZO channels are expressed in distinct tissues and exhibit unique pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79466e743a827537eb5de9ee99de9b82
https://doi.org/10.1101/2021.05.24.445504
https://doi.org/10.1101/2021.05.24.445504
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Timothy Syndrome (TS) (OMIM #601005) is a rare autosomal dominant syndrome caused by variants in CACNA1C, which encodes the α1C subunit of the voltage-gated calcium channel Cav1.2. TS is classically caused by only a few different genetic changes and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::238c7afeb636d38bdbb961848c264427
http://europepmc.org/articles/PMC8165229
http://europepmc.org/articles/PMC8165229
Autor:
Simon C. Mears, Ann Majewicz, Rosemary Bauer, Allison M. Okamura, Jason Glasser, Stephen M. Belkoff
Publikováno v:
HAPTICS
Osteosynthesis procedures require the insertion of self-tapping orthopaedic screws through bone plates and into one or two layers of cortical bone, in order stabilize the fractured bones. Applying too much torque can cause the screw to strip and lose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::521ed3a2b3e427f689c8dd29fca2dde0
https://doi.org/10.1109/haptic.2010.5444610
https://doi.org/10.1109/haptic.2010.5444610