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Tags: Pedigree

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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven…

Tags: 2019, Adult, Antonellis Anthony, Baras Aris, Biochemistry & Molecular Biology, Brigatti Karlla W, Carson Vincent J, Catalytic Domain, Child, Demczko Matthew M, Female, Fox Michael D, Furuya Katryn N, gene, Genetic Diseases, Genetic Predisposition to Disease, Genetics & Heredity, Gonzaga-Jauregui Claudia, Griffin Laurie B, Hearing Loss, Heterozygote, Homozygote, Human molecular genetics, Humans, impairment, Inborn, Infant, Jinks Robert N, Kandula Vinay V R, lactic-acidosis, Loss of Function Mutation, Male, Martinez Erick D, mechanisms, Miles Lili, Mutation, myopathy, NEOMED College of Medicine Student, NEOMED Student Publications, Newborn, onset, Overton John D, Pedigree, Phenotype, phenotypic variability, Poskitt Laura, Preschool, Puffenberger Erik G, Radhakrishnan Kadakkal, recessive mutations, Reid Jeffrey G, Sensorineural, September 2019 Update, Severity of Illness Index, Strauss Kevin A, swiss-model, Tyrosine-tRNA Ligase, variant, Wenger Olivia K, Whole Exome Sequencing, Williams Katie B, Yeasts, Yoder Mark A

Barrett's esophagus: an acquired condition with genetic predisposition.

We describe four families with a strong familial expression of Barrett's/gastroesophageal reflux disease (GERD) complex spanning one to four generations with two to seven affected members per family. The purpose of this report is to highlight genetic…

Tags: 1993, Adenocarcinoma/genetics, Aged, Barrett Esophagus/*genetics/pathology, Biopsy, Dominant, Esophageal Neoplasms/genetics, Esophagus/pathology, Fahmy N, Female, Gastroesophageal Reflux/*genetics, Genes, Humans, King J F, Male, Middle Aged, Pedigree, The American journal of gastroenterology

Spontaneous vertebral artery dissection as a complication of autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) may be associated with a variety of cardiovascular complications, including intracranial saccular aneurysms. In ADPKD, intracranial saccular aneurysms tend to rupture more frequently and earlier…

Tags: *Vertebral Artery, 1995, Adult, American journal of kidney diseases : the official journal of the National Kidney Foundation, Aneurysm, Autosomal Dominant/*complications/genetics, Department of Internal Medicine, Dissecting/*genetics, Humans, Intracranial Aneurysm/*genetics, Larranaga J, Male, NEOMED College of Medicine, Pedigree, Polycystic Kidney, Rutecki G W, Whittier F C

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