Results 31 to 40 of about 519 (143)

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

Molecular Genetics &Genomic Medicine, Volume 8, Issue 10, October 2020., 2020
We performed the whole‐exome sequencing of the hepato‐encephalopathy patient with MTDPS. The functional analyses revealed the clinical significance of the identified variant. Abstract Background Mitochondrial DNA depletion syndrome (MTDPS) is part of a group of mitochondrial diseases characterized by a reduction in mitochondrial DNA copy number.
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki   +10 more
wiley   +1 more source

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders

Journal of Inherited Metabolic Disease, Volume 43, Issue 4, Page 701-711, July 2020., 2020
Abstract In the rapidly growing group of rare genetic disorders, data scarcity demands an intelligible use of available data, in order to improve understanding of underlying pathophysiology. We hypothesize, based on the principle that clinical similarities may be indicative of shared pathophysiology, that determining phenotypic specificity could ...
Hanneke A. Haijes, Jaak Jaeken, Peter M. van Hasselt   +2 more
wiley   +1 more source

Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations [PDF]

The Open Pediatric Medicine Journal, 2009
Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mu- tations; V8F (
M. Harel-Meir, Y. Bujanover, Y. Berkun, N. Goldstein, Y. Anikster   +4 more
openaire   +1 more source

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

, 1999
Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. The disorder is caused by a deficient activity of mevalonate kinase
Houten, S. M., Waterham, H. R., Duran, M., Romeijn, G. J., Waterham, HR, Duran, M, de Klerk, J. B., Smit, GPA, de Klerk, JBC, Gibson, KM, Koster, J, Gibson, K. M., Darbyshire, P, Gray, R. G. F., Wanders, RJA, Gray, RGF, Romeijn, GJ, Darbyshire, P., Smit, G. P., Gray, R. G., Houten, SM, Koster, J., Klerk, Hans, Wanders, R. J., Duran, M (Marinus)   +24 more
core   +1 more source

Knockdown of MVK does not lead to changes in NALP3 expression or activation [PDF]

, 2015
Mutations in the Mevalonate Kinase gene (MVK) are causes of a rare autoinflammatory disease: Mevalonate Kinase Deficiency and its more acute manifestation, Mevalonic Aciduria.
Maurizio Romano, Sergio Crovella, ROMANO, MAURIZIO, Fulvio Celsi, PISCIANZ, ELISA, Elisa Piscianz, CROVELLA, SERGIO, Celsi, Fulvio   +7 more
core   +1 more source

A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation

, 2023
Background: Mevalonate kinase (MVK) plays a role in cholesterol and non-sterol isoprenoid biosynthesis and its deficiency-related diseases are caused by bi-allelic pathogenic mutations in the MVK gene, (MVK), which leads to rare hereditary ...
Gezgin Yıldırım, Deniz, Filiz Basak Cengiz Ergin, Karaçayır, Nihal, Ergin, Filiz Başak, Nihal Karaçayır, Yıldız, Çisem, Çisem Yıldız, Asli Inci, Leyla Tümer, Ezgü, Fatih Süheyl, Deniz Gezgin Yıldırım, Bakkaloğlu, SEVCAN AZİME, Pelin Esmeray Şenol, Eğritaş Gürkan, Ödül, Okur, İlyas, Tümer, Leyla, Sunar Yayla, Emine Nur Sunar, Esmeray Şenol, Pelin, Ilyas Okur, Sevcan A. Bakkaloğlu, Emine Nur Sunar Sunar Yayla, İnci, Aslı, Fatih S. Ezgü, Ödül Eğritaş Gürkan   +23 more
core   +1 more source

Hints for Genetic and Clinical Differentiation of Adult‐Onset Monogenic Autoinflammatory Diseases

Mediators of Inflammation, Volume 2019, Issue 1, 2019., 2019
Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube, and/or the central nervous system, with reactive amyloidosis as a potential severe long‐term ...
Carla Gaggiano, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Alessandra Fabbiani, Giovanna Capozio, Chiara Marzo, Viviana Gelardi, Salvatore Grosso, Bruno Frediani, Alessandra Renieri, Luca Cantarini, Maria Rosaria Catania   +12 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

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

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