Results 21 to 30 of about 1,156 (180)
Verrucous papules and plaques in a middle‐aged man
, 2023 International Journal of Dermatology, Volume 62, Issue 10, Page 1215-1217, October 2023.
Ruan S. de Jager +2 more
wiley +1 more source
Genetic Disorders of the Extracellular Matrix
The Anatomical Record, Volume 303, Issue 6, Page 1527-1542, June 2020., 2020 ABSTRACT Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throughout the body. The elucidation of mutations and their correlation with pathology has been instrumental in understanding the roles of many ECM components. The pathological consequences of ECM protein mutations depend
Shireen R. Lamandé, John F. Bateman
wiley +1 more source
Lipoid Proteinosis in a Young Female: A Case Report [PDF]
International Journal of Anatomy Radiology and Surgery, 2017 Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive disorder. It is characterised by progressive deposition of hyaline substance in the mucous membranes, skin and internal organs.
Veeraputhiran Senthilvelmurugan +2 more
doaj +1 more source
Journal of Biochemical and Clinical Genetics, 2021 Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported
Abdul Ali Peer-Zada +5 more
doaj +1 more source
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family [PDF]
, 2011 Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the ECM1 gene located on chromosome ...
Muhammad Nasir +5 more
core +1 more source
Você conhece esta síndrome? Do you know this Syndrome
Anais Brasileiros de Dermatologia, 2008 A síndrome de Urbach-Wiethe, também conhecida como lipoidoproteinose ou hialinose cutânea e mucosa (OMIM 247100), é rara genodermatose de herança autossômica recessiva, de patogênese desconhecida, que se caracteriza pela deposição de material hialino na ...
Luciana Baptista Pereira +1 more
doaj +1 more source
What does the amygdala contribute to social cognition? [PDF]
, 2010 The amygdala has received intense recent attention from neuroscientists investigating its function at the molecular, cellular, systems, cognitive, and clinical level. It clearly contributes to processing emotionally and socially relevant information, yet
Adolphs, Ralph
core +2 more sources
Lipoid proteinosis: A rare congenital genodermatosis
Journal of Dr. NTR University of Health Sciences, 2017 Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj +1 more source
Amygdala Lesions Reduce Anxiety-like Behavior in a Human Benzodiazepine-Sensitive Approach-Avoidance Conflict Test [PDF]
, 2017 BACKGROUND: Rodent approach-avoidance conflict tests are common preclinical models of human anxiety disorder. Their translational validity mainly rests on the observation that anxiolytic drugs reduce rodent anxiety-like behavior.
Bach, DR +5 more
core +1 more source
An Enhanced Default Approach Bias Following Amygdala Lesions in Humans [PDF]
, 2015 Approach and avoidance constitute a basic dimension of all animal behavior. Although a large number of studies have investigated approach and avoidance elicited by specific sensory stimuli, comparatively little is known about default approach biases when
Adolphs, Ralph +2 more
core +2 more sources