Results 11 to 20 of about 718 (127)

Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1) [PDF]

BMC Genetics, 2011
Background Arachnomelia syndrome is an autosomal recessive inherited disease in cattle. Affected calves die around birth and show malformations of the skeleton mainly affecting the legs, the spinal column and the skull.
Semmer Jördis, Buitkamp Johannes, Götz Kay-Uwe   +2 more
doaj   +2 more sources

The peacefulness gene promotes aggression in Drosophila

Molecular Brain, 2019
Natural aggressiveness is commonly observed in all animal species, and is displayed frequently when animals compete for food, territory and mating. Aggression is an innate behaviour, and is influenced by both environmental and genetic factors.
Mahmoudreza Ramin, Yueyang Li, Wen-Tzu Chang, Hunter Shaw, Yong Rao   +4 more
doaj   +2 more sources

Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach [PDF]

Egyptian Journal of Medical Human Genetics, 2016
Background: Sulfite oxidase deficiency (SOD) is a rare neurometabolic inherited disorder causing severe delay in developmental stages and premature death.
Mohamad-Reza Aghanoori, Ghazaleh Mohammadzadeh Shahriary, Mahdi Safarpour, Ahmad Ebrahimi   +3 more
doaj   +2 more sources

Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics. [PDF]

IJU Case Rep, 2023
Introduction Early diagnosis of patients with urolithiasis or hypouricemia owing to inborn errors of hypoxanthine metabolism is important in preventing renal failure or drug‐induced toxicity. Case presentation We identified three patients with xanthinuria using gas chromatography/mass spectrometry‐based urine metabolomics: a 72‐year‐old male with ...
Kuhara T, Tetsuo M, Ohse M, Shirakawa T, Nakashima Y, Yoshiura KI, Tanaka N, Taya T.   +7 more
europepmc   +2 more sources

Biphasic Memory Impairment and Recovery After Sevoflurane Exposure Are Associated With Time-Dependent Hippocampal α5-GABAAR Remodeling. [PDF]

CNS Neurosci Ther
Our study reveals that the reversible changes in memory impairment and recovery following sevoflurane with dynamic changes of expression and distribution of α5‐GABAAR. Memory impairment is associated with the upregulation of α5‐GABAAR expression and postsynaptic distribution on day 2 after sevoflurane exposure.
Wang S, Chen L, Wang S, Zhang C, Zhang M, Wang Z, Dong J, Liu Q, Dong Z, Wang X, Dong Y, Luo Y, Wang Y, Yin Y.   +13 more
europepmc   +2 more sources

miR-138-5p targets MCU to inhibit mitochondrial biogenesis and colorectal cancer growth. [PDF]

J Cell Mol Med, 2023
Abstract miR‐138‐5p has been identified as a novel cancer‐related miRNA molecule in a variety of malignancies. However, the functions and mechanisms underlying miR‐138‐5p in colorectal carcinoma (CRC) remains largely unknown. In the present study, we analysed the biological effects and clinical significance of miR‐138‐5p in CRC.
Zhu J, Zhang C, Wang Z, Shi L, Li L, Wu H, Liu M.   +6 more
europepmc   +2 more sources

Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate. [PDF]

J Inherit Metab Dis
ABSTRACT Molybdenum cofactor deficiency (MoCD) Type A is an ultrarare disorder causing neurodegeneration and early death. Cyclic pyranopterin monophosphate (cPMP), a molybdenum cofactor precursor, is a therapeutic option for patients with MoCD Type A.
Schwarz G, Basel DG, Schwahn BC, Spiegel R, Wong FY, Bliss R, Squires L.   +6 more
europepmc   +2 more sources

Association of Lifestyle-Induced Weight Loss With Gene Expression in Subcutaneous Adipose Tissue in Metabolic Syndrome. [PDF]

J Diabetes
ABSTRACT Aims Lifestyle‐induced weight loss (LIWL) is considered an effective therapy for the treatment of metabolic syndrome (MetS). The role of differentially expressed genes (DEGs) in adipose tissue function and in the success of LIWL in MetS is still unclear.
Zimmermann S, Roomp K, Meyer HJ, Mathew A, Struck MF, Blüher M, Martin HNG, Keller M, Landgraf K, Körner A, Hoffmann A, Böttcher Y, Biemann K, Ghosh A, Wolfrum C, Noé F, Isermann B, Schneider JG, Biemann R.   +18 more
europepmc   +2 more sources

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency. [PDF]

Eur J Pediatr
Xanthinurias are rare inherited disorders of purine metabolism. Xanthinuria type III is caused by molybdenum cofactor deficiency (MoCD) due to pathogenic variants in MOCS1, MOCS2, MOCS3, or GEPH genes.
Cho SK, Schwarz G, Tasic V, Křížková M, Krijt J, Roeper J, Honzík T, Šebesta I, Kožich V, Šaligová J, Pavelcova K, Masinova J, Winkler CA, Stiburkova B.   +13 more
europepmc   +2 more sources

Molybdenum cofactor deficiency (MOCS2): A rare case report delineating as severe neonatal presentation as hypoxic-ischemic encephalopathy due to Molybdenum cofactor deficiency / isolated sulfite oxidase deficiency.

International Journal of Medical Sciences and Academic Research, 2023
INTRODUCTION: We report a infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were intractable neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hypotona,low blood uric acid ...
Dr.shruti dhale , Dr.Anjali Pawar, Dr.shubham Meshram , Dr.Shantanu Sarpate   +3 more
doaj   +1 more source