Results 121 to 130 of about 1,105,613 (399)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Identification of BPIFA1/SPLUNC1 as an epithelium-derived smooth muscle relaxing factor

Nature Communications, 2017
Asthma is characterized by abnormal airway hyperresponsiveness. Here the authors identify BPIFA1 as a factor secreted by airway epithelial cells, and show that it regulates contractility of airway smooth muscle cells by binding to and regulating the ...
Tongde Wu, Julianne Huang, Patrick J. Moore, Michael S. Little, William G. Walton, Robert C. Fellner, Neil E. Alexis, Y. Peter Di, Matthew R. Redinbo, Stephen L. Tilley, Robert Tarran   +10 more
doaj   +1 more source

Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants. [PDF]

, 2019
Available CFTR modulators provide no therapeutic benefit for cystic fibrosis (CF) caused by many loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel, including N1303K. We previously introduced the
Finkbeiner, Walter E, Haggie, Peter M, Nielson, Dennis W, Phuan, Puay-Wah, Rivera, Amber A, Tan, Joseph-Anthony, Verkman, Alan S, Zlock, Lorna   +7 more
core  

Transition to adult services for children and young people with palliative care needs : a systematic review [PDF]

, 2009
Objective: To evaluate the evidence on the transition process from child to adult services for young people with palliative care needs. Design: Systematic review Setting: Child and adult services and interface between healthcare providers.
Adi, Y., Carter, Yvonne, Doug, Manjo, Kelly, Daniel, Paul, Moli, Petchey, Roland, Williams, Jacky   +6 more
core   +3 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Bacteria in the airways of patients with cystic fibrosis are genetically capable of producing VOCs in breath. [PDF]

, 2016
Breath contains hundreds of volatile organic compounds (VOCs), the composition of which is altered in a wide variety of diseases. Bacteria are implicated in the formation of VOCs, but the biochemical mechanisms that lead to the formation of breath VOCs ...
Blake, Donald, Bos, Lieuwe DJ, Meinardi, Simone, Whiteson, Katrine   +3 more
core   +2 more sources

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Cystic fibrosis

The Journal of the Royal College of Physicians of Edinburgh, 2013
There are now more adult than paediatric cystic fibrosis (CF) patients and their life expectancy continues to improve. This means that CF patients will be more commonly encountered in a variety of hospital settings including fertility services, gastrointestinal (GI) clinics, diabetes clinics, surgical wards, and acute admissions.
A E, Leitch, H C, Rodgers
openaire   +2 more sources

Bioactive Thymosin Alpha-1 Does Not Influence F508del-CFTR Maturation and Activity. [PDF]

, 2019
Deletion of phenylalanine 508 (F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel is the most frequent mutation causing cystic fibrosis (CF). F508del-CFTR is misfolded and prematurely degraded. Recently thymosin a-1 (
Armirotti, Andrea, Braccia, Clarissa, Cholon, Deborah M, Galietta, Luis JV, Gentzsch, Martina, Guidone, Daniela, Hanrahan, John W, Lukacs, Gergely L, Matthes, Elizabeth, Pedemonte, Nicoletta, Phuan, Puay-Wah, Tomati, Valeria, Veit, Guido, Verkman, Alan S   +13 more
core  

Aspergillus fumigatus enhances elastase production in pseudomonas aeruginosaco-cultures [PDF]

, 2015
In the cystic fibrosis (CF) lung the presence of bacteria and fungi in the airways promotes an inflammatory response causing progressive lung damage, ultimately leading to high rates of morbidity and mortality.
Kerr, Stephen, Lappin, David F., Mackay, William G., Rajendran, Ranjith, Ramage, Gordon, Smith, Karen, Williams, Craig   +6 more
core   +1 more source