Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Carla, Ciccone"'
Autor:
Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator (LYST) gene. Diagnosis is established by the detection of pathogenic variants in LYST in combinatio
Externí odkaz:
https://doaj.org/article/a5b5866443d44273bd3fd32bca890596
Autor:
Melanie Quintana, William A. Gahl, Levent Bayman, Scott A. Van Wart, Colleen Jodarski, Claire T. Driscoll, Chia-Ying Liu, Nuria Carrillo, Carla Ciccone, Galen O. Joe, Scott M. Berry, Rebecca Parks, John D. Heiss, Bradley Class, May Christine V. Malicdan, Kennan Bradley, Petcharat Leoyklang, Joseph A. Shrader, John Perreault, Christopher S. Coffey, Christina Slota, Marjan Huizing
Publikováno v:
Genetics in Medicine
BASE-Bielefeld Academic Search Engine
BASE-Bielefeld Academic Search Engine
PURPOSE To evaluate the safety and efficacy of N-acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the rate-limiting enzyme in N-acetylneuraminic acid (Neu5Ac) biosynthesis. METHODS We conducted an open-labe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a82c0347e0a4ccd7fefea938b01afb7
http://europepmc.org/articles/PMC8553608
http://europepmc.org/articles/PMC8553608
Autor:
Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 114-123 (2014)
OPA3-related 3-methylglutaconic aciduria, or Costeff Optic Atrophy syndrome, is a neuro-ophthalmologic syndrome of early-onset bilateral optic atrophy and later-onset spasticity, and extrapyramidal dysfunction. Urinary excretion of 3-methylglutaconic
Externí odkaz:
https://doaj.org/article/7a0990be5ef34c87a4445b76b8948a35
Autor:
Giovanni Scala, Pierpaolo Cavallo, Angelo Colucci, Sean Richards, Giuseppe Maria Maruotti, Laura Sarno, Carla Ciccone, Steven J. K. Symes, Jacopo Troisi, David Adair, Maurizio Guida, Annamaria Landolfi, Pasquale Martinelli
Objective Heart anomalies represent nearly one-third of all congenital anomalies. They are currently diagnosed using ultrasound. However, there is a strong need for a more accurate and less operator-dependent screening method. Here we report a metabo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4cd9fdd69b594a9e682990e7f39ff28
http://hdl.handle.net/11386/4758182
http://hdl.handle.net/11386/4758182
Publikováno v:
Journal of Circulating Biomarkers, Vol 1 (2013)
The secretory Rab27B small GTPase promotes invasive growth, tumourigenicity and metastasis in oestrogen receptor (ER)-positive human breast cancer cells. Coherently, increased Rab27B expression in breast cancer patients is associated with a poor prog
Externí odkaz:
https://doaj.org/article/a765c8f7028942f5ba7c3f839405d61b
Autor:
Debra S Regier, Steven J. Soldin, Shirisha Avadhanula, Brian Stolze, Wendy J. Introne, Carla Ciccone, Sungyoung Auh, Kenneth D. Burman, Fady Hannah-Shmouni, Joanna Klubo-Gwiezdzinska, Armando C. Filie
Publikováno v:
JAMA Network Open
Key Points Question Is alkaptonuria associated with thyroid dysfunction? Findings In this cohort study, 125 adults with alkaptonuria followed up for a median of 93 months were found to have a 16.0% prevalence of primary hypothyroidism. This prevalenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146f288abbda268a821ca1b8d4ce16a5
https://pubmed.ncbi.nlm.nih.gov/32202640
https://pubmed.ncbi.nlm.nih.gov/32202640
Autor:
Bradley Class, Yifan Shi, Xin Xu, Michael Zhang, Amy Wang, Wanjing Liu, William A. Gahl, Carla Ciccone, Meng Fang, Nuria Carrillo, Guodong Gu, Marjan Huizing
Publikováno v:
Biomed Chromatogr
The biosynthesis of sialic acid (Neu5Ac) leads to the intracellular production of cytidine-5'-monophospho-N-acetylneuraminic acid (CMP-Neu5Ac), the active sialic acid donor to nascent glycans (glycoproteins and glycolipids) in the Golgi. UDP-N-acetyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd4b4e9e0a206d4097559516d07d6c3
https://europepmc.org/articles/PMC8336284/
https://europepmc.org/articles/PMC8336284/
Autor:
Thierry Vilboux, Carla Ciccone, Jan K Blancato, Gerald F Cox, Charu Deshpande, Wendy J Introne, William A Gahl, Ann C M Smith, Marjan Huizing
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e22861 (2011)
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congenital anomalies. The syndrome is primarily ascribed to a ∼3.7 Mb de novo deletion on chromosome 17p11.2. Haploinsufficiency of multiple genes likely u
Externí odkaz:
https://doaj.org/article/50f7b6127045448f9c89fb44e82106c0
Autor:
Carla Ciccone, Nuria Carrillo, Barry R. Goldspiel, John C. McKew, Nora Yang, May Christine V. Malicdan, Amy Wang, Frank Celeste, Lea Latham, Pramod S. Terse, James Cradock, Marjan Huizing, Xin Xu, William A. Gahl, Selwyn Yorke
Publikováno v:
Molecular Genetics and Metabolism. 122:126-134
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44382db5a79dafd4e6d16663e67536a
https://doi.org/10.1016/j.ymgme.2017.04.010
https://doi.org/10.1016/j.ymgme.2017.04.010
Autor:
William A. Gahl, John D. Heiss, Vandana Singhal, Joseph A. Shrader, Angela Gruber, John Perreault, Prashant Chittiboina, Christina Slota, Aaron Poliak, Christina Hayes, Carla Ciccone, Marjan Huizing, May Christine V. Malicdan, Jennifer Garland, Joshi Stephen, Bradley Class, Ralitza H. Gavrilova, Galen O. Joe, Nuria Carrillo
Publikováno v:
Molecular Genetics & Genomic Medicine. 5:410-417
Background GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)-N-acetylglucosamine (G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64c6152e6e474ac65f435d799e37663d
https://doi.org/10.1002/mgg3.300
https://doi.org/10.1002/mgg3.300