Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Wilfredo De Jesús Rojas"'
Autor:
Wilfredo De Jesús-Rojas, José Muñiz-Hernández, Francisco Alvarado-Huerta, Jesús M. Meléndez-Montañez, Arnaldo J. Santos-López, Ricardo A. Mosquera
Publikováno v:
Diagnostics, Vol 12, Iss 5, p 1127 (2022)
Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the RSPH4A (c.921+3_6delAAGT)
Externí odkaz:
https://doaj.org/article/63bf01deb0af4fa09c68d92bd8f5acfa
Autor:
Mosquera, Wilfredo De Jesús-Rojas, Luis Reyes-Peña, José Muñiz-Hernández, Patricia Quiles Ruiz de Porras, Jesús Meléndez-Montañez, Marcos J. Ramos-Benitez, Ricardo A.
Publikováno v:
Diagnostics; Volume 13; Issue 13; Pages: 2287
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder that results from the dysfunction of motile cilia, which can cause chronic upper and lower respiratory infections leading to bronchiectasis. However, there is a need for additional t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::3129ee631a1486a56e8878176c20b691
Publikováno v:
Diagnostics, Vol 11, Iss 2, p 281 (2021)
Primary ciliary dyskinesia (PCD) is a rare, heterogeneous ciliopathy resulting in chronic oto-sino-pulmonary disease, bronchiectasis, newborn respiratory distress, and laterality defects. PCD diagnosis can be achieved by following diagnostic algorith
Externí odkaz:
https://doaj.org/article/d322377858bc47b58dc43fa3fddfda8b
Autor:
Wilfredo De Jesús-Rojas, Francisco Alvarado-Huerta, Jesús Meléndez-Montañez, José Muñiz-Hernández, Arnaldo Santos-López, Ricardo Mosquera
Publikováno v:
Advances in Respiratory Medicine; Volume 90; Issue 5; Pages: 399-406
Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed99604236d3e3389f55896bea986c2a
Autor:
Wilfredo De Jesús-Rojas, Jesús Meléndez-Montañez, José Muñiz-Hernández, André Marra-Nazario, Francisco Alvarado-Huerta, Arnaldo Santos-López, Marcos J. Ramos-Benitez, Ricardo A. Mosquera
Publikováno v:
International Journal of Molecular Sciences. 24:1936
The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the RSPH4A gene alter an important protein structure involved in ciliary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa03c5cc862aa1f1e7163b2a140986e0
https://doi.org/10.3390/ijms24031936
https://doi.org/10.3390/ijms24031936
Autor:
Jesus M Melendez-Montañez, Wilfredo De Jesús-Rojas, Victor Acosta-Rivera, Francisco Diaz-Sotomayor
Publikováno v:
Cureus
Surfactant protein C (SP-C) is a hydrophobic lipoprotein necessary for lowering alveolar surface tension and lung defense mechanisms. Defects in its function due to genetic mutations in the SFTPC gene have been increasingly identified in patients pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef397de18bc6df5d037be184530bfd8
https://doi.org/10.7759/cureus.17422
https://doi.org/10.7759/cureus.17422
Publikováno v:
Cureus
A rare lung disease, bronchiolitis obliterans (BO) is characterized by airway obstruction and fibrosis of the terminal and respiratory bronchioles. It usually occurs after lung and bone marrow transplants, hematopoietic stem cell transplantation (HSC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f00473f797c7af1b721f188bf6454212
https://doi.org/10.7759/cureus.17193
https://doi.org/10.7759/cureus.17193
Publikováno v:
Cureus
Congenital unilateral pulmonary hypoplasia of a pulmonary artery is considered a rare congenital anomaly in the pediatric and adult population. With an estimated prevalence of one in 200,000, it can range from partial to near-total lung underdevelopm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3216d77186f481456f1001416281f3ae
https://doi.org/10.7759/cureus.16473
https://doi.org/10.7759/cureus.16473
Publikováno v:
Cureus
Bronchiolitis obliterans (BO) is a rare form of chronic obstructive lung disease characterized by obliteration of the small airways caused by inflammation and fibrosis. In children, BO most commonly appears following a severe lower respiratory tract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e383a725ab95f357fe7eae77e9b25885
https://doi.org/10.7759/cureus.15591
https://doi.org/10.7759/cureus.15591
Autor:
Abymael Frontanes-Heredia, Wilfredo De Jesús-Rojas, Sherry L Santiago-Castro, Michael A Ramirez-Arenalde, Wilmarie J Bruckman-Blanco
Publikováno v:
Cureus
Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3. This syndrome demonstrates dominant inheritance a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84091ef7349f714ea388e3c6befccd37
http://europepmc.org/articles/PMC8301725
http://europepmc.org/articles/PMC8301725