Results 31 to 40 of about 426 (123)

Examining the genomic influence of topically applied probiotics in vitro

International Journal of Cosmetic Science, Volume 46, Issue 6, Page 995-1003, December 2024.
The present study examines the genomic influence of four topically applied probiotics onto reconstructed human epidermis models. The probiotics were applied to RHE via just‐add‐water powders containing the living probiotics and examines 244 skin specific gene responses resulting from 24 h of contact between the RHE and the living probiotics.
James V. Gruber, Robert Holtz, Megan Roach   +2 more
wiley   +1 more source

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency

Case Reports in Pediatrics, Volume 2018, Issue 1, 2018., 2018
Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life‐threatening sequelae if ...
Nadia K. Rafiq, Helen Lachmann, Frodi Joensen, Troels Herlin, Paul A. Brogan, Ozgur Cogulu   +5 more
wiley   +1 more source

Mevalonic Aciduria as a Differential Diagnosis of Blueberry Muffin Baby [PDF]

Journal of Neonatal Biology, 2016
Mevalonate kinase (MK) deficiency is an auto inflammatory autosomal recessive disorder caused by a mutation in the gene encoding MK, an essential enzyme in the biosynthesis of cholesterol and isoprenoids. The disease has a wide clinical spectrum according to enzyme residual activity, the most severe form is known as Mevalonic Aciduria (MA).
Rafaela Wagner, Camila Vieira Bellettini
openaire   +1 more source

Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature

JIMD Reports, Volume 65, Issue 5, Page 305-312, September 2024.
Abstract Alpha‐methylacyl‐CoA‐racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood.
Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay   +10 more
wiley   +1 more source

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

Immunology &Cell Biology, Volume 94, Issue 10, Page 994-999, November/December 2016., 2016
Mevalonate kinase deficiency (MKD) is caused by mutations in a key enzyme of the mevalonate–cholesterol biosynthesis pathway, leading to recurrent autoinflammatory disease characterised by enhanced release of interleukin‐1β (IL‐1β). It is currently believed that the inflammatory phenotype of MKD is triggered by temperature‐sensitive loss of mevalonate ...
Julie Jurczyluk, Marcia A Munoz, Oliver P Skinner, Ryan C Chai, Naveid Ali, Umaimainthan Palendira, Julian MW Quinn, Alexandra Preston, Stuart G Tangye, Andrew J Brown, Elizabeth Argent, John B Ziegler, Sam Mehr, Michael J Rogers   +13 more
wiley   +1 more source

Mevalonic Aciduria: An Inborn Error of Cholesterogenesis Characterized by Mevalonate Kinase Deficiency [PDF]

Baylor University Medical Center Proceedings, 1989
Recent work has led to the discovery of six patients with mevalonic aciduria, a severe hereditary human pathology characterized by the massive accumulation of mevalonic acid in physiological fluids...
openaire   +1 more source

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias

International Journal of Laboratory Hematology, Volume 46, Issue 4, Page 595-605, August 2024.
This review focuses on recent advancements in the field of hereditary dyserythropoietic anemias and provides a gene‐based classification of this heterogeneous group of genetic disorders. Abstract Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are rare disorders disrupting normal erythroid lineage development ...
Roberta Russo, Achille Iolascon, Immacolata Andolfo, Roberta Marra, Barbara Eleni Rosato   +4 more
wiley   +1 more source

Mevalonate kinase deficiency: current perspectives

The Application of Clinical Genetics, 2016
Leslie A Favier, Grant S Schulert Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of
Favier LA, Schulert GS
doaj  

Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 302-316, March 2024.
Abstract Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder caused by bi‐allelic loss‐of‐function variants in the MVK gene, resulting in decreased activity of the encoded mevalonate kinase (MK). Clinical presentation ranges from the severe early‐lethal mevalonic aciduria to the milder hyper‐IgD syndrome (MKD–HIDS), and is in ...
Frouwkje A. Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R. Waterham   +4 more
wiley   +1 more source

Characterization of novel mevalonate kinases from the tardigrade Ramazzottius varieornatus and the psychrophilic archaeon Methanococcoides burtonii

Acta Crystallographica Section D, Volume 80, Issue 3, Page 203-215, March 2024.
This work reports the purification, biochemical characterization and high‐resolution structures of two novel mevalonate kinases: one from the extremotolerant tardigrade Ramazzottius varieornatus at 2 Å resolution and one from the psychrophilic archaeon Methanococcoides burtonii at 2.2 Å resolution.Mevalonate kinase is central to the isoprenoid ...
Lygie Esquirol, Janet Newman, Tom Nebl, Colin Scott, Claudia Vickers, Frank Sainsbury, Thomas S. Peat   +6 more
wiley   +1 more source