Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Laura M. Pollard"'
Autor:
Jen-Jie Lee, Tong Wang, Kali Wiggins, Po Nien Lu, Christina Underwood, Katarzyna Ochenkowska, Eric Samarut, Laura M. Pollard, Heather Flanagan-Steet, Richard Steet
Publikováno v:
iScience, Vol 27, Iss 4, Pp 109293- (2024)
Summary: The classic view of the lysosome as a static recycling center has been replaced with one of a dynamic and mobile hub of metabolic regulation. This revised view raises new questions about how dysfunction of this organelle causes pathology in
Externí odkaz:
https://doaj.org/article/9d229b2a21904723996c072b771dd568
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Autor:
Paul J. Orchard, Ashish O. Gupta, Julie B. Eisengart, Lynda E. Polgreen, Laura M. Pollard, Elizabeth Braunlin, Marzia Pasquali, Troy C. Lund
Publikováno v:
Blood Advances. 6:6023-6027
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2143d35f6710b0c33eb633cca7a0e1
https://doi.org/10.1182/bloodadvances.2022007212
https://doi.org/10.1182/bloodadvances.2022007212
Autor:
Laura M. Pollard, Troy C. Lund, Weston P. Miller, Paul J. Orchard, Marc C. Patterson, David A. Wenger, Deborah L. Renaud, Katrina Simmons, Julie B. Eisengart
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Background Deficiency in the enzyme β‐mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood‐onset β‐mannosidase deficiency consists of hypotonia in the newborn period followed by global d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a06fa8e30625cec267301e5f07667b
https://doi.org/10.1002/mgg3.712
https://doi.org/10.1002/mgg3.712
Publikováno v:
Nucleic Acids Research
Friedreich ataxia is caused by an expanded (GAA•TTC)n sequence, which is unstable during intergenerational transmission and in most patient tissues, where it frequently undergoes large deletions. We investigated the effect of DSB repair on instabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567992427dbf382678f3b6fd1906e324
http://europepmc.org/articles/PMC2241870
http://europepmc.org/articles/PMC2241870
Autor:
Laura M. Pollard, Nicola Longo, Neena L. Champaigne, Tim Wood, Irene De Biase, Richard J. Schroer
Publikováno v:
JIMD Reports ISBN: 9783642247576
Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation caused by mutations in the SLC22A5 gene encoding for the carnitine transporter OCTN2. Carnitine uptake deficiency results in renal carnitine wasting and low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8d985fa8feb4badc23b83ab508f7e96
https://pubmed.ncbi.nlm.nih.gov/23430858
https://pubmed.ncbi.nlm.nih.gov/23430858
Publikováno v:
Mutation research. 661(1-2)
Expanded triplet repeat sequences are known to cause at least 16 inherited neuromuscular diseases. In addition to short-length changes, expanded triplet repeat tracts frequently undergo large changes, often amounting to hundreds of base-pairs. Such c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707f5448ea3fd40fbf1306fd4047707f
https://pubmed.ncbi.nlm.nih.gov/19046977
https://pubmed.ncbi.nlm.nih.gov/19046977
Publikováno v:
Nucleic Acids Research
The most common mutation in Friedreich ataxia is an expanded (GAATTC)n sequence, which is highly unstable in human somatic cells and in the germline. The mechanisms responsible for this genetic instability are poorly understood. We previously showed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9571872296738a418e6af97847cdb8a8
https://pubmed.ncbi.nlm.nih.gov/17932052
https://pubmed.ncbi.nlm.nih.gov/17932052
Autor:
Martin B. Delatycki, Bronya J.B. Keats, Sanjay I. Bidichandani, Laura M. Pollard, Sonali Shah, Antonella Monticelli, Mariluz Gómez, Luigi Pianese, Rajesh Sharma
Friedreich ataxia is caused by the expansion of a polymorphic and unstable GAA triplet repeat in the FRDA gene, but the mechanisms for its instability are poorly understood. Replication of (GAA•TTC)n sequences (9–105 triplets) in plasmids propaga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d48edff44122c830452facd7a5a89eae
https://europepmc.org/articles/PMC528813/
https://europepmc.org/articles/PMC528813/
