Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

Amin Ziaei1, Xiaohong Xu1, Leila Dehghani1

  • 1Translational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.

Neurology. Genetics
|August 13, 2019
PubMed
Abstract

Related Concept Videos

Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
16.7K
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
9.8K
Gene Families01:57

Gene Families

3.5K
Diffusion01:12

Diffusion

Diffusion is the passive movement of substances down their concentration gradients—requiring no expenditure of cellular energy. Substances, such as molecules or ions, diffuse from an area of high concentration to an area of low concentration in the cytosol or across membranes. Eventually, the concentration will even out, with the substance moving randomly but causing no net change in concentration. Such a state is called dynamic equilibrium, which is essential for maintaining overall...
216.5K
Mutations01:39

Mutations

Overview
94.4K
Classifying Matter by State02:49

Classifying Matter by State

Chemistry is the study of matter and the changes it undergoes. Matter is anything that has mass and occupies space. Matter is all around us; the air, water, soil, mountains, even our bodies are all examples of matter. Matter is divided into three states — solid, liquid, and gas — that are commonly found on earth. The fourth state of matter, plasma, occurs naturally in the interiors of stars. 
102.5K