Results 11 to 20 of about 6,542 (163)

Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations [PDF]

Genome Medicine, 2022
We describe a case series of five infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Children’s intensive care units (ICU) with complex multisystem disorders.
Nour Halabi, Sathishkumar Ramaswamy, Maha El Naofal, Alan Taylor, Sawsan Yaslam, Ruchi Jain, Roudha Alfalasi, Shruti Shenbagam, Martin Bitzan, Lemis Yavuz, Hamda Abulhoul, Shiva Shankar, Dalwinder Janjua, Devendrasing Jadhav, Munira Mahmoud Al Maazmi, Walid Abuhammour, Alawi Alsheikh-Ali, Mohamed Al Awadhi, Abdulla Al Khayat, Ahmad N. Abou Tayoun   +19 more
doaj   +8 more sources

Single nucleotide polymorphisms within LIPA (Lysosomal Acid Lipase A) gene are associated with susceptibility to premature coronary artery disease. a replication in the genetic of atherosclerotic disease (GEA) Mexican study. [PDF]

PLoS ONE, 2013
AimThe rs1412444 and rs2246833 polymorphisms within the LIPA gene were recently found to be significantly associated with coronary artery disease (CAD) in genome-wide association studies in Caucasian and Asian populations.
Gilberto Vargas-Alarcón, Carlos Posadas-Romero, Teresa Villarreal-Molina, Edith Alvarez-León, Javier Angeles, Maite Vallejo, Rosalinda Posadas-Sánchez, Guillermo Cardoso, Aida Medina-Urrutia, Eric Kimura-Hayama   +9 more
doaj   +4 more sources

Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the LIPA Gene in the Risk Group Patients

Российский журнал гастроэнтерологии, гепатологии, колопроктологии
Aim: to study the prevalence of lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease) among high-risk patients using selective biochemical screening.Material and methods. Samples from 2805 patients are collected as dried
S. V. Shtykalova, A. A. Egorova, O. S. Glotov, A. V. Kiselev, I. Yu. Kogan   +4 more
doaj   +2 more sources

Screening, lipA Gene Amplification and Molecular Identification of Lipolytic Fungi from Contaminated Soils

Journal of Advances in Microbiology, 2022
Lipase is a glycerol ester hydrolase that hydrolyzes esters of triglycerides. This study aimed to isolate, screen and characterize lipolytic fungi with lipA gene from soil environments. Fungi [molds and yeasts] were isolated from contaminated soil samples randomly collected from Palm oil mills, Abattoirs and Automobile servicing workshops in Eleme and ...
Akinduyite, A. E, Abu, G. O, Agwa, O. K
openaire   +2 more sources

Drosophila Lipase 3 Mediates the Metabolic Response to Starvation and Aging

Frontiers in Aging, 2022
The human LIPA gene encodes for the enzyme lysosomal acid lipase, which hydrolyzes cholesteryl ester and triacylglycerol. Lysosomal acid lipase deficiency results in Wolman disease and cholesteryl ester storage disease.
Lea Hänschke, Christoph Heier, Christoph Heier, Christoph Heier, Santiago José Maya Palacios, Huseyin Erdem Özek, Christoph Thiele, Reinhard Bauer, Ronald P. Kühnlein, Ronald P. Kühnlein, Ronald P. Kühnlein, Margret H. Bülow   +11 more
doaj   +1 more source

Lipoic acid metabolism in Escherichia coli: sequencing and functional characterization of the lipA and lipB genes [PDF]

Journal of Bacteriology, 1993
Two genes, lipA and lipB, involved in lipoic acid biosynthesis or metabolism were characterized by DNA sequence analysis. The translational initiation site of the lipA gene was established, and the lipB gene product was identified as a 25-kDa protein.
K E, Reed, J E, Cronan
openaire   +2 more sources

Cloning and transcriptional analysis of the lipA (lipoic acid synthetase) gene from Rhizobium etli [PDF]

FEMS Microbiology Letters, 1997
We report here the isolation of a Rhizobium etli gene involved in lipoic acid metabolism, the lipA gene, which complements a lipA mutant strain of Escherichia coli. A promoter region (lipAp) was mapped immediately upstream of lipA and two in vivo transcription initiation sites were identified, preceded by sequences showing some homology to the -10/-35 ...
Tate R, Riccio A, Iaccarino M, Patriarca EJ   +3 more
openaire   +3 more sources

Characterization of the lipA gene encoding the major lipase from Pseudomonas aeruginosa strain IGB83 [PDF]

Applied Microbiology and Biotechnology, 2001
The lipases produced by Pseudomonas have a wide range of potential biotechnological applications. Pseudomonas aeruginosa IGB83 was isolated as a highly lipolytic strain which produced a thermotolerant and alkaline lipase. In the present work, we have characterized the P. aeruginosa IGB83 gene (lipA) encoding this enzyme. We describe the construction of
Martínez-Antonio, Agustino, Soberón-Chávez, Gloria   +1 more
openaire   +2 more sources

Detection and diversity of the mannosylerythritol lipid (MEL) gene cluster and lipase A and B genes of Moesziomyces antarcticus isolated from terrestrial sites chronically contaminated with crude oil in Trinidad

BMC Microbiology, 2022
Background Mannosylerythritol lipids (MELs) belong to the class of glycolipid biosurfactants and are produced by members of the Ustilago and Moesziomyces genera. Production of MELs is regulated by a biosynthetic gene cluster (MEL BGC).
Amanda C. Ramdass, Sephra N. Rampersad
doaj   +1 more source

Wolman Disease Presenting With HLH Syndrome and a Novel LIPA Gene Variant: a Case-based Review [PDF]

, 2022
Abstract Introduction: Wolman Disease (WD) is a rare disease caused by the absence of functional liposomal acid lipase (LAL) due to mutations in LIPA gene. It presents with organomegaly, malabsorption and adrenal calcifications. The presentations can resemble Hemophagocytic lymphohistiocytosis (HLH), the life threatening hyper-inflammatory ...
Kosar Asna Ashari, Aileen Azari-Yam, Mohammad Shahrooei, Vahid Ziaee   +3 more
openaire   +1 more source