Results 11 to 20 of about 467 (113)

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1 [PDF]

Clinical Genetics
The Pashtun population is prone to genetic diseases due to common practice of familial marriage and socio‐cultural isolation. Through exome sequencing of four selected families, we identified causative and candidate variants in TSEN54, MOCS2, and OPHN1.
Tobias Haack, Patrick May, Holger Lerche
exaly   +5 more sources

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene [PDF]

Diagnostics, 2020
(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary ...
Aleksandra Jezela-Stanek, Witold Blaz, Artur Gora, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska   +5 more
doaj   +3 more sources

Downstream Target Analysis for miR-365 among Oral Squamous Cell Carcinomas Reveals Differential Associations with Chemoresistance [PDF]

Life
Expression of microRNAs, such as miR-365, is known to be dysregulated in many tumors, including oral cancers, although little is known about their role or functions.
Brendon Yu, Nathaniel Kruse, Katherine M. Howard, Karl Kingsley   +3 more
doaj   +3 more sources

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

European Journal of Pediatrics
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.
Guenter Schwarz, Sung Kweon Cho, Blanka Stibůrková   +2 more
exaly   +3 more sources

Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development

Frontiers in Psychiatry, 2019
Pyridoxine (vitamin B6)-responsive epilepsies are severe forms of epilepsy that manifest as seizures immediately after birth, sometimes in utero, sometimes months, or years after birth.
Bjørnar Hassel, Bjørnar Hassel, Ane Gretesdatter Rogne, Sigrun Hope   +3 more
doaj   +2 more sources

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

Molecular Genetics & Genomic Medicine, 2019
Background Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes.
Serena Gasperini, Maria Iascone, Pierangelo Veggiotti   +2 more
exaly   +2 more sources

Genomic aberrations in lung adenocarcinoma in never smokers. [PDF]

PLoS ONE, 2010
BACKGROUND: Lung cancer in never smokers would rank as the seventh most common cause of cancer death worldwide. METHODS AND FINDINGS: We performed high-resolution array comparative genomic hybridization analysis of lung adenocarcinoma in sixty never ...
Bastien Job, Alain Bernheim, Michèle Beau-Faller, Sophie Camilleri-Broët, Philippe Girard, Paul Hofman, Julien Mazières, Saloua Toujani, Ludovic Lacroix, Julien Laffaire, Philippe Dessen, Pierre Fouret, LG Investigators   +12 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

Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature

Egyptian Journal of Medical Human Genetics
Background Molybdenum cofactor deficiency (MoCD) is a rare genetic disease primarily affecting the nervous system. While xanthinuria is a typical feature of MoCD, xanthine stones have been rarely described.
Abdelrahim A. Sadek, Mohammed A. Aladawy, Rofaida M. Magdy, Mohammed Fawzy Fouad, Tarek M. M. Mansour, Eman Fathalla Gad, Elsayed Abdelkreem   +6 more
doaj   +2 more sources

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene. [PDF]

Genes (Basel), 2023
Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG)
Tofilo M, Voronova N, Nigmatullina L, Kuznetsova E, Timonina V, Efimenko B, Turgunkhujaev O, Avdeichik S, Ansar M, Popadin K, Kirillova A, Mazunin I.   +11 more
europepmc   +2 more sources