Results 51 to 60 of about 2,231,771 (385)

Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots

International Journal of Neonatal Screening, 2021
Neonatal dried blood spots (DBS) provide a remarkable resource for biobanks. These microsamples can provide information related to the genetic correlates of disease and can be used to quantify a range of analytes, such as proteins and small molecules ...
Sanne Grundvad Boelt, Lars Melgaard, Marta Jadwiga Thorbek, Nadia Sara Jensen MacSween, John J. McGrath, Arieh S. Cohen   +5 more
doaj   +1 more source

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BMC Medical Genetics, 2018
Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients.
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu   +3 more
doaj   +1 more source

Invasive Obstetric Procedures and Cesarean Sections in Women With Known Herpes Simplex Virus Status During Pregnancy. [PDF]

, 2017
BackgroundNeonatal herpes is a potentially devastating infection that results from acquisition of herpes simplex virus (HSV) type 1 or 2 from the maternal genital tract at the time of vaginal delivery.
Drolette, Linda, Gardella, Carolyn, Laschansky, Ellen, Magaret, Amalia S, Moss, Nicholas J, Selke, Stacey, Stankiewicz Karita, Helen C, Wald, Anna   +7 more
core   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening

Frontiers in Genetics, 2019
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene.
Yiming Lin, Hongzhi Gao, Chunmei Lin, Yanru Chen, Shuang Zhou, Weihua Lin, Zhenzhu Zheng, Xiaoqing Li, Min Li, Qingliu Fu   +9 more
doaj   +1 more source

Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study

Scientific Reports, 2021
Spermine oxidase (SMOX) catalyzes the oxidation of spermine to spermidine. Observational studies have reported SMOX as a source of reactive oxygen species associated with cancer, implying that inhibition of SMOX could be a target for chemoprevention ...
João Fadista, Victor Yakimov, Urmo Võsa, Christine S. Hansen, Silva Kasela, Line Skotte, Frank Geller, Julie Courraud, Tõnu Esko, Viktorija Kukuškina, Alfonso Buil, Mads Melbye, Thomas M. Werge, David M. Hougaard, Lili Milani, Jonas Bybjerg-Grauholm, Arieh S. Cohen, Bjarke Feenstra   +17 more
doaj   +1 more source

Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis [PDF]

, 2018
BACKGROUND: In children with cystic fibrosis (CF), recovery from growth faltering within 2 years of diagnosis (Responders) is associated with better growth and less lung disease at age 6 years.
Farrell, Philip M., Lai, HuiChuan J., Sanders, Don B., Zhang, Zhumin   +3 more
core   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

Protein kinase FAM20C—when subcellular localization matters

FEBS Letters, EarlyView.
FAM20C is a Golgi‐resident kinase that phosphorylates proteins along the entire secretory pathway. The presence of potential FAM20C substrates in the cytoplasm or nucleus raises the question of how the kinase and its substrates encounter each other. Protein kinases achieve signaling specificity through consensus sequence recognition and subcellular ...
Francesca Noventa, Mauro Salvi
wiley   +1 more source