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Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFSuccessful Reduction of a Dislocated Hip Joint in a Patient With Cutis Laxa From a PYCR1 Mutation: Case Report.
JBJS Case Connect
October 2024
School of Medicine, University of Jordan, Amman, Jordan.
The surgical principles of treating a high riding hip dislocation in patients with positive PYCR1 gene mutation should be comprehensive including open reduction, pelvic osteotomy, and femoral shortening osteotomy with derotation. Meticulous capsulorrhaphy optimizes the development and stability of the hip joint.
View Article and Find Full Text PDFGolgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.
Cell Mol Life Sci
December 2024
Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.
Loss-of-function variants in ATP6V0A2, encoding the trans Golgi V-ATPase subunit V0a2, cause wrinkly skin syndrome (WSS), a connective tissue disorder with glycosylation defects and aberrant cortical neuron migration. We used knock-out (Atp6v0a2) and knock-in (Atp6v0a2) mice harboring the R755Q missense mutation selectively abolishing V0a2-mediated proton transport to investigate the WSS pathomechanism. Homozygous mutants from both strains displayed a reduction of growth, dermis thickness, and elastic fiber formation compatible with WSS.
View Article and Find Full Text PDFAcquired Cutis Laxa Type 2 (Marshall's Syndrome) Associated with Sweet's Syndrome: A Rare Entity.
Indian J Dermatol
October 2024
From the Department of Dermatology, and Venereology, S.C.B. Medical College and Hospital, Cuttack, Odisha, India E-mail:
Acquired generalised cutis laxa with visceral involvement in a patient with rheumatoid arthritis and monoclonal gammopathy of uncertain significance.
Indian J Dermatol Venereol Leprol
April 2024
Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
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