Results 51 to 60 of about 6,036 (217)

Cútis laxa: relato de caso Cutis laxa: case report

Anais Brasileiros de Dermatologia, 2010
A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico.
Gisele Moro do Nascimento, Caroline Sampaio Alves Nunes, Paula Fatuch Menegotto, Salmo Raskin, Nádia de Almeida   +4 more
doaj   +1 more source

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

Cútis laxa granulomatosa: relato de caso Granulomatous slack skin: a case report

Anais Brasileiros de Dermatologia, 2007
A cútis laxa granulomatosa é variante de linfoma T cutâneo com características histopatológicas semelhantes às da micose fungóide, além da presença de infiltrado granulomatoso e perda de fibras elásticas.
Maria do Rosário Ferraz Roberti, Cristiane Araújo Tuma   +1 more
doaj   +1 more source

Emerging Roles of De Novo Proline Biosynthesis in Human Diseases

FASEB BioAdvances, Volume 7, Issue 11, November 2025.
De novo proline synthesis, a multi‐step biochemical pathway starting from glutamate, supplies essential protein building blocks. It supports redox balance, cell proliferation, signal transduction, and nucleotide and protein biosynthesis. This tightly regulated pathway, governed by conserved mechanisms, is disrupted in diseases such as cancer and ...
Ethan Pei, Junfeng Ma
wiley   +1 more source

Cútis Laxa Adquirida: Relato de Caso/ Acquired Cutis Laxa: Case Reported

Revista Ciências em Saúde, 2011
Introdução: A Cútis Laxa é uma doença que resulta na alteração do tecido elástico, tornando a pele frouxa. A forma adquirida é mais rara e tem etiopatogenia desconhecida.
Karla Di Latella Boufleur, Ligia Junqueira Ragazzini, Kátia Mussolini Gama Gazze   +2 more
doaj   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, Volume 103, Issue 7, Page e436-e455, November 2025.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma [PDF]

Anais Brasileiros de Dermatologia, 2013
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain ...
Fernanda Guedes Lavorato, Maria de Fátima Guimarães Scotelaro Alves, Juan Manuel Piñeiro Maceira, Natasha Unterstell, Laura Araújo Serpa, Luna Azulay-Abulafia   +5 more
doaj   +1 more source

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]

, 2017
To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela, Auer-Grumbach, Piet, Budka, Herbert, El Shabrawi-Caelen, Laila, Fink-Puches, Regina, Fröhlich, Eleonore, Guelly, Christian, Haas, Anton, Janecke, Andreas R., Metze, Dieter, Papić, Lea, Pieber, Thomas R., Schabhüttl, Maria, Senderek, Jan, Trajanoski, Slave, Weger, Martin, Windpassinger, Christian   +16 more
core  

Impact of N‐linked glycans on the dual short fibulin/LTBP‐4 axes regulating elastogenesis

The FEBS Journal, Volume 292, Issue 21, Page 5676-5696, November 2025.
Elastic fiber assembly is orchestrated by multiple glycoproteins. We delineate the molecular basis of two key axes involved in elastic fiber formation—LTBP‐4L/fibulin‐4 and LTBP‐4S/fibulin‐5. We show that N‐linked glycans on these glycoproteins regulate their interactions and conformations, both of which are critical aspects in elastic fiber formation.
Valentin Nelea, Heena Kumra, Chae Syng Lee, Daniel Williamson, Hana Hakami, Rong‐Mo Zhang, Neha E. H. Dinesh, Robert Haltiwanger, Dieter P. Reinhardt   +8 more
wiley   +1 more source

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis [PDF]

, 2000
Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome.
Andrade, José Lazaro de, Carvalho, Antonio Carlos, Gomes, Lourdes, Moisés, Valdir Ambrósio, Rivera, Ivan Romero, Silva, Celia Camelo   +5 more
core   +5 more sources