Heterozygous variants in DCC

اسناد مشابه

• Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy

  سند علمی۲۰۱۷Arquivos brasileiros de cardiologiaJulianny Freitas Rafael, Fernando Eugênio dos Santos Cruz Filho, Antônio Carlos Campos de Carvalho, Ilan Gottlieb

  Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with speci

• Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

  سند علمی۱۹۹۳BloodK Okajima, H Abe, S Maeda, M Motomura

  A novel variant of antithrombin III (AT III) that lacks affinity for heparin was found in a 33-year-old man who suffered from recurrent cerebral infarction. The propositus had a history of recurrent ischemic attacks from the age of 28. He was obese and had a smoking habit (30 to

• Very early onset inflammatory bowel disease with compound heterozygous variants in Nuclear Factor of Activated T cell 5

  مقاله‌ی دسترسی آزاد۲۰۲۱European Journal of Immunology['Nina V. Kirk', 'Jens Jensen', 'Mikkel Steen Petersen', 'A. Al-Mousawi', 'Trine H. Mogensen', 'Gwen Clarke', 'Carsten Hvid Larsen', '']

  A female with very early onset inflammatory bowel disease (VEO-IBD) was shown to carry two compound heterozygous missense variants in Nuclear Factor of Activated T cells 5 and have impaired induction iTregs. The NFAT5 may be the cause lack iTregs consequently development VEO-IBD.

• Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

  سند علمی۲۰۱۷Molecular genetics & genomic medicinePatrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson

  BACKGROUND Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METH

• New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome

  سند علمی۲۰۱۷MedicineHuiru Feng, Hongyu Zhou

  INTRODUCTION Congenital myasthenic syndromes (CMS) are a group of genetic disorders that stem mostly from molecular defects in nicotinic acetylcholine receptors (AChRs). Defects in the cholinergic receptor nicotinic delta subunit (CHRND) gene can cause a series of myasthenic synd

• A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene

  سند علمی۲۰۱۷OncotargetWeiyuan Fang, Peng Song, Xinbao Xie, Jianshe Wang

  The deoxyguanosine kinase (DGUOK) gene controls mitochondrial DNA (mtDNA) maintenance, and variation in the gene can alter or abolish the anabolism of mitochondrial deoxyribonucleotides. A Chinese female infant, whose symptoms included weight stagnation, jaundice, hypoglycemia, c