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Items: 12

Select item 83122431.

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Matthias Schmuth

Front Genet. 2021; 12: 689940. Published online 2021 Jul 12. doi: 10.3389/fgene.2021.689940

PMCID:: PMC8312243

Abstract Article PDF–1.4M

Select item 78792842.

The Role of Trichoscopy in Keratosis Follicularis Spinulosa Decalvans: Case Report and Review of the Literature

Aurora Alessandrini, Giancarlo Brattoli, Bianca Maria Piraccini, Ambra Di Altobrando, Michela Starace

Skin Appendage Disord. 2021 Jan; 7(1): 29–35. Published online 2020 Oct 12. doi: 10.1159/000510525

PMCID:: PMC7879284

Abstract Article PDF–1016K

Select item 46399573.

Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases

Dipali D Malvankar, S Sacchidanand

Int J Trichology. 2015 Jul-Sep; 7(3): 125–128. doi: 10.4103/0974-7753.167461

PMCID:: PMC4639957

Abstract Article

Select item 37462244.

Keratosis Follicularis Spinulosa Decalvans: A Rare Cause of Scarring Alopecia in Two Young Indian Girls

Uma G Maheswari, V Chaitra, Subbiah S Mohan

Int J Trichology. 2013 Jan-Mar; 5(1): 29–31. doi: 10.4103/0974-7753.114713

PMCID:: PMC3746224

Abstract Article

Select item 16826395.

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

J C Oosterwijk, M Nelen, P M van Zandvoort, L D van Osch, A P Oranje, D Wittebol-Post, B A van Oost

Am J Hum Genet. 1992 Apr; 50(4): 801–807.

PMCID:: PMC1682639

Summary Page Browse PDF–834K

Select item 10516776.

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

J C Oosterwijk, M J van der Wielen, E van de Vosse, E Voorhoeve, E Bakker

J Med Genet. 1995 Sep; 32(9): 736–739. doi: 10.1136/jmg.32.9.736

PMCID:: PMC1051677

Summary Page Browse PDF–644K

Select item 10512867.

Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

M E Porteous, L Strain, L J Logie, R M Herd, E C Benton

J Med Genet. 1998 Apr; 35(4): 336–337. doi: 10.1136/jmg.35.4.336

PMCID:: PMC1051286

Summary Page Browse PDF–314K

Select item 10158198.

Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.

L D van Osch, A P Oranje, F M Keukens, P C van Voorst Vader, E Veldman

J Med Genet. 1992 Jan; 29(1): 36–40. doi: 10.1136/jmg.29.1.36

PMCID:: PMC1015819

Summary Page Browse PDF–1.3M

Select item 102484129.

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

Pei Jin Lim, Giulio Marcionelli, Pakeerathan Srikanthan, Timothée Ndarugendamwo, Jason Pinner, Marianne Rohrbach, Cecilia Giunta

Front Endocrinol (Lausanne) 2023; 14: 1195704. Published online 2023 May 25. doi: 10.3389/fendo.2023.1195704

PMCID:: PMC10248412

Abstract Article PDF–15M

Select item 798191210.

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

Natarin Caengprasath, Thanakorn Theerapanon, Thantrira Porntaveetus, Vorasuk Shotelersuk

J Transl Med. 2021; 19: 114. Published online 2021 Mar 20. doi: 10.1186/s12967-021-02779-5

PMCID:: PMC7981912

Abstract Article PDF–1.9M

Select item 521973511.

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton, Carmen Ayuso

BMC Med Genet. 2017; 18: 1. Published online 2017 Jan 7. doi: 10.1186/s12881-016-0364-5

PMCID:: PMC5219735

Abstract Article PDF–4.0M

Select item 817629312.

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Pakeerathan Srikanthan, Martin Poms, Martin Hersberger, Claus-Dieter Langhans, Dorothea Haas, Marianne Rohrbach, Cecilia Giunta

Front Genet. 2021; 12: 662751. Published online 2021 May 21. doi: 10.3389/fgene.2021.662751