Results 31 to 40 of about 625 (116)

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

A CASE OF ORPHAN HYALINE FIBROMATOSIS SYNDROME IN UKRAINE

Eastern Ukrainian Medical Journal, 2023
Background. Hyaline fibromatosis syndrome is a rare, highly dramatic, autosomal recessive multisystem disorder. The basis of the disease is the abnormal diffuse deposition of hyaline material in the connective tissue and internal organs. Mutations in the CMG2 gene (also known as the ANTXR2 gene) cause the disease.
Olena Redko, Oleksandr Smiyan, Andriy Loboda, Viktoriia Petrashenko, Iryna Shkolna, Ihor Zaitsev, Sergiy Redko, Anzhela Klochko, Tetyana Obzor, Ruban Kyrylo   +9 more
openaire   +2 more sources

Collagen VI as a driver and disease biomarker in human fibrosis

The FEBS Journal, Volume 289, Issue 13, Page 3603-3629, July 2022., 2022
Collagen VI plays an important role in organizing three‐dimensional tissue architecture. However, its expression is elevated in numerous fibrotic diseases such as NASH and IPF, specifically associating around myofibroblast‐rich fibrotic foci. Enzymatic cleavage of collagen VI leads to the release of bioactive peptides, which exacerbates the fibrotic ...
Lynn Williams, Thomas Layton, Nan Yang, Marc Feldmann, Jagdeep Nanchahal   +4 more
wiley   +1 more source

A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis

Indian Journal of Paediatric Dermatology, 2022
Infantile Systemic Hyalinosis, now included under the unifying term, “hyaline fibromatosis syndrome” (HFS) is a rare, progressive and fatal autosomal recessive disorder characterized by various dermatological manifestations such as thickened skin ...
Indhra Priyadharshini, Sirisha Varala, Tallapaka Karthik Bharadwaj, Ananthula Venkata Krishna   +3 more
doaj   +1 more source

A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene. [PDF]

Ann Dermatol, 2019
Park CS, Lee J, Byun HJ, Lim Y, Park JH, Lee JH, Lee DY, Lee JH, Yang JM, Lee JH, Yoo SY.   +10 more
europepmc   +3 more sources

Puretic syndrome-gingival fibromatosis with hyaline fibromas [PDF]

Japanese journal of human genetics, 1980
A 21-month-old Japanese boy with Puretic syndrome (gingival fibromatosis with hyaline fibromas) was reported. On the basis of the present case and 17 cases in the literature, it was concluded that the disorder was a very rare connective tissue disease with an autosomal recessive mode of inheritance.
K, Hamada, S, Ohdo, K, Hayakawa, I, Kikuchi, M, Koono   +4 more
openaire   +2 more sources

P242: Hyaline fibromatosis syndrome: Musculoskeletal manifestations and bone health

Genetics in Medicine Open
Ozlem Turedi, Jeremy Woods, Joseph Shieh
doaj   +2 more sources

Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. [PDF]

J Med Case Rep, 2014
الورم الليفي الهياليني اليافع والهياليني الجهازي الطفلي هما نوعان من نفس المتلازمة الجسدية المتنحية ؛ متلازمة الورم الليفي الهياليني، التي تتميز بآفات الجلد الحطاطية، وتضخم اللثة، وتقلصات انثناء المفاصل، وآفات العظام الانحلالية، وتوقف النمو. يتميز مرض الهيالين الجهازي الطفلي عن الورم الليفي الهياليني اليافع بنمطه الظاهري الأكثر شدة، والذي يشمل رواسب ...
Jaouad IC, Guaoua S, Hajjioui A, Sefiani A.   +3 more
europepmc   +4 more sources

Infantile systemic hyalinosis: report of a case from Bahrain and review of literature

Journal of Biochemical and Clinical Genetics, 2020
Background: Infantile systemic hyalinosis (ISH), an allelic form of hyaline fibromatosis syndrome, is a rare fatal autosomal recessive disorder that is caused by mutations in the CMG2/ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2.
Zahra Alsahlawi, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, Emtethal Aljishi   +4 more
doaj   +1 more source

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. [PDF]

BMC Genet, 2017
Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21.
Haidar Z, Temanni R, Chouery E, Jithesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Mégarbané A.   +12 more
europepmc   +4 more sources