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Items: 1 to 20 of 126

1.

Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.

Wang HJ, Tang ZL, Lin ZM, Dai LL, Chen Q, Yang Y.

Clin Exp Dermatol. 2014 Mar;39(2):158-61. doi: 10.1111/ced.12248. Epub 2013 Dec 7.

PMID:
24313295
2.

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath JA.

Clin Exp Dermatol. 2015 Jul;40(5):529-32. doi: 10.1111/ced.12587. Epub 2015 Feb 16.

PMID:
25683132
3.

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

Oeffner F, Martinez F, Schaffer J, Salhi A, Monfort S, Oltra S, Neidel U, Bornholdt D, van Bon B, König A, Happle R, Grzeschik KH.

Exp Dermatol. 2011 May;20(5):447-9. doi: 10.1111/j.1600-0625.2010.01238.x. Epub 2011 Mar 22.

PMID:
21426410
4.

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH.

Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8.

PMID:
23316014
5.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.

Ming A, Happle R, Grzeschik KH, Fischer G.

Pediatr Dermatol. 2009 Jul-Aug;26(4):427-31. doi: 10.1111/j.1525-1470.2009.00946.x.

PMID:
19689518
6.

Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

Izumi K, Wilkens A, Treat JR, Pride HB, Krantz ID.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e263-4. doi: 10.1111/pde.12115. Epub 2013 Apr 3.

PMID:
23551428
7.

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.

Nakayama J, Iwasaki N, Shin K, Sato H, Kamo M, Ohyama M, Noguchi E, Arinami T.

J Hum Genet. 2011 Mar;56(3):250-2. doi: 10.1038/jhg.2010.163. Epub 2010 Dec 23.

PMID:
21179107
8.

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.

Tang L, Liang J, Wang W, Yu L, Yao Z.

J Am Acad Dermatol. 2011 Apr;64(4):716-22. doi: 10.1016/j.jaad.2010.02.045.

PMID:
21315478
9.

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.

Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, McGrath JA.

Clin Exp Dermatol. 2012 Aug;37(6):631-4. doi: 10.1111/j.1365-2230.2011.04288.x.

PMID:
22816986
10.

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.

Pietrzak A, Kanitakis J, Staśkiewicz G, Sobczyńska-Tomaszewska A, Dybiec E, Szumiło J, Kandzierski G, Wawrzycki B, Chodorowska G.

Eur J Dermatol. 2012 Jul-Aug;22(4):467-72. doi: 10.1684/ejd.2012.1772.

PMID:
22781927
11.

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.

Ding YG, Wang JY, Qiao JJ, Mao XH, Cai SQ.

Br J Dermatol. 2010 Oct;163(4):886-9. doi: 10.1111/j.1365-2133.2010.09890.x. Epub 2010 Jul 28. No abstract available.

PMID:
20854407
12.

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N.

Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21.

PMID:
22105905
13.

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

Corujeira S, Águeda S, Monteiro G, Canelhas A, Sampaio M, Rocha R, Leão M.

Eur J Med Genet. 2013 Nov;56(11):603-5. doi: 10.1016/j.ejmg.2013.09.005. Epub 2013 Sep 30.

PMID:
24090718
14.

Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.

Ferrari B, Morita L, Choate K, Hu RH.

Dermatol Online J. 2017 Feb 15;23(2). pii: 13030/qt8vx6n6n1.

PMID:
28329493
15.

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH.

Am J Hum Genet. 2009 Apr;84(4):459-67. doi: 10.1016/j.ajhg.2009.03.014.

16.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Mégarbané H, Mégarbané A.

Orphanet J Rare Dis. 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29. Review.

17.

Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.

Nemer G, Safi R, Kreidieh F, Usta J, Bergqvist C, Ballout F, Btadini W, Hamzeh N, Abbas O, Kibbi AG, Shimomura Y, Kurban M.

Arch Dermatol Res. 2017 Jul 17. doi: 10.1007/s00403-017-1762-z. [Epub ahead of print]

PMID:
28717930
18.

Ichthyosis follicularis with alopecia and photophobia.

Eramo LR, Esterly NB, Zieserl EJ, Stock EL, Herrmann J.

Arch Dermatol. 1985 Sep;121(9):1167-74.

PMID:
4037843
19.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT.

Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335.

PMID:
20672378

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