Results 61 to 70 of about 836 (156)
Aging Cell, Volume 23, Issue 10, October 2024.This study integrated genome, transcriptome, and proteome data to explore the potential target for chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF), and found the robust associations of SCARF2with them. Furthermore, single cell transcriptome analysis implicated that SCARF2was lowly expressed in epithelial cells for ...
Sai Wang +4 more
wiley +1 more source
Respirology, Volume 29, Issue 4, Page 312-323, April 2024.We report the characteristics and follow‐up data of 36 adult patients in France with ILD associated variant(s) in SFTPC or ABCA3. SFTPC and ABCA3‐associated ILD present with a distinct phenotype and prognosis. A radiologic pattern of fibrosing ILD with ground‐glass opacities and/or cysts is frequently found in these rare conditions. Abstract Background
Rémi Diesler +48 more
wiley +1 more source
Lipoid proteinosis in siblings
Dermatology Online Journal, 2003 Two sisters, aged 16 and 11, presented with skin lesions and hoarseness since early childhood. Skin lesions consisted of infiltrated warty nodules, and papules over elbows, axillae, and hands. The oral mucosa, tongue, lips, larynx, and vocal cords also showed infiltration. The characteristic beaded papules on eyelid margin and hoarseness pointed to the
openaire +4 more sources
Lipoid proteinosis: A review with two case reports
Contemporary Clinical Dentistry, 2015 Lipoid proteinosis (LP) is a rare autosomal recessive genodermatoses characterized by deposition of amorphous hyaline material in different parts of the body, especially the skin, mucous membranes of the upper aerodigestive tract, and internal organs ...
Vishal Kabre +3 more
doaj +1 more source
Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness
B-ENT, 2015 Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness. Background: Lipoid proteinosis is an autosomal recessive disorder characterized by hyalin deposits in the skin and mucosa of the upper aerodigestive tract; currently, no ...
J. Honings +2 more
doaj +2 more sources
Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
Indian Dermatology Online Journal, 2014 Lipoid proteinosis is a very rare autosomal recessive disorder characterized by deposition of hyaline material in the skin and the upper aerodigestive tract. Hoarseness of voice occurs very early in life and airway obstruction may occur.
Rekha Thaddanee +3 more
doaj +1 more source
Lipoid proteinosis in a six-year-old child
Indian Dermatology Online Journal, 2012 Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21.
Surajit Nayak, Basanti Acharjya
doaj +1 more source