Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 109

1.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH.

Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.

2.

Mutations in PIGL in a patient with Mabry syndrome.

Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.

Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23.

PMID:
25706356
3.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D.

Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.

4.

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R.

Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008.

5.

Glycosylphosphatidylinositol anchors of membrane glycoproteins are binding determinants for the channel-forming toxin aerolysin.

Diep DB, Nelson KL, Raja SM, Pleshak EN, Buckley JT.

J Biol Chem. 1998 Jan 23;273(4):2355-60.

6.

Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Shashi V, Zunich J, Kelly TE, Fryburg JS.

J Med Genet. 1995 Jun;32(6):465-9. Review.

7.

Multilineage glycosylphosphatidylinositol anchor-deficient haematopoiesis in untreated aplastic anaemia.

Mukhina GL, Buckley JT, Barber JP, Jones RJ, Brodsky RA.

Br J Haematol. 2001 Nov;115(2):476-82.

PMID:
11703352
8.

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

Nakagawa T, Taniguchi-Ikeda M, Murakami Y, Nakamura S, Motooka D, Emoto T, Satake W, Nishiyama M, Toyoshima D, Morisada N, Takada S, Tairaku S, Okamoto N, Morioka I, Kurahashi H, Toda T, Kinoshita T, Iijima K.

Am J Med Genet A. 2016 Jan;170A(1):183-8. doi: 10.1002/ajmg.a.37397. Epub 2015 Sep 30.

PMID:
26419326
9.

What syndrome is this? CHIME syndrome.

Sidbury R, Paller AS.

Pediatr Dermatol. 2001 May-Jun;18(3):252-4. No abstract available.

PMID:
11438011
10.

Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome.

Schnur RE, Greenbaum BH, Heymann WR, Christensen K, Buck AS, Reid CS.

Am J Med Genet. 1997 Oct 3;72(1):24-9. Review.

PMID:
9295069
11.

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A.

J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1.

PMID:
23636107
12.

Glycophosphatidylinositol-anchored protein deficiency as a marker of mutator phenotypes in cancer.

Chen R, Eshleman JR, Brodsky RA, Medof ME.

Cancer Res. 2001 Jan 15;61(2):654-8.

13.

Resistance of paroxysmal nocturnal hemoglobinuria cells to the glycosylphosphatidylinositol-binding toxin aerolysin.

Brodsky RA, Mukhina GL, Nelson KL, Lawrence TS, Jones RJ, Buckley JT.

Blood. 1999 Mar 1;93(5):1749-56.

14.

[Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy].

Murakami Y, Kinoshita T.

No To Hattatsu. 2015 Jan;47(1):5-13. Review. Japanese.

PMID:
25803904
15.
16.

Requirement of N-glycan on GPI-anchored proteins for efficient binding of aerolysin but not Clostridium septicum alpha-toxin.

Hong Y, Ohishi K, Inoue N, Kang JY, Shime H, Horiguchi Y, van der Goot FG, Sugimoto N, Kinoshita T.

EMBO J. 2002 Oct 1;21(19):5047-56.

17.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L.

J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14.

PMID:
21493957
18.

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T.

J Biol Chem. 2012 Feb 24;287(9):6318-25. doi: 10.1074/jbc.M111.331090. Epub 2012 Jan 6.

19.

Analysis of receptor binding by the channel-forming toxin aerolysin using surface plasmon resonance.

MacKenzie CR, Hirama T, Buckley JT.

J Biol Chem. 1999 Aug 6;274(32):22604-9.

20.

Both PIGA and PIGL mutations cause GPI-a deficient isolates in the Tk6 cell line.

Nicklas JA, Carter EW, Albertini RJ.

Environ Mol Mutagen. 2015 Oct;56(8):663-73. doi: 10.1002/em.21953. Epub 2015 May 13.

Supplemental Content

Support Center