|
��չ����
|
|
| ������Ϣ | |
 |
Supporting info |
|
PDFȫ�� |
|
[HTMLȫ��] |
|
����� |
| �����뷴�� | |
|
�������ù����� |
|
���� |
|
Email Alert |
|
���·��� |
|
���������Ϣ |
| ���Ĺؼ���������� | |
|
ɫ��ʧ��֢ |
|
NEMO |
|
����ͻ�� |
|
NF-��B |
| ��������������� | |
|
��˳�� |
|
��ѧ�� |
|
��ɭ |
| PubMed | |
|
Article by |
|
Article by |
|
Article by |
ɫ��ʧ��֢�ķ����Ŵ�ѧ�о���չ
��˳��, ��ѧ��, ��ɭ
����ҽ�ƴ�ѧƤ�����о�������һ����ҽԺƤ���Բ���, �Ϸ�230022
ɫ��ʧ��֢��һ��XȾɫ�����������Ŵ���Ƥ����,�������о������ò�������NEMO����ͻ�䵼��NF-��B�ź�ͨ���������¡���NEMO����ͻ�䡢NEMO������XȾɫ������ʧ����Ի��ߴ������Ļ����о��Ͷ���ģ�͵Ƚ��в�����
[2] Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol, 2002, 47:169-187.
[3] Topham EJ, Simpson Dent SL, Child FJ. Case 1. Incontinentia pigmenti. Clin Exp Dermatol, 2003, 28:103-104.
[4] Scardamaglia L, Howard A, Sinclair R. Twenty-nail dystrophy in a girl with incontinentia pigmenti. Australas J Dermatol, 2003,44:71-73.
[5] Mayer E J, Shuttleworth GN, Greenhalgh KL, et al. Novel corneal features in two males with incontinentia pigmenti. Br J Ophthalmol,2003, 87:554-556.
[6] Cates CA, Dandekar SS, Flanagan DW, et al. Retinopathy of incontinentia pigmenti: a case report with thirteen years follow-up. Ophthalmic Genet, 2003, 24:247-252.
[7] Porksen G, Pfeiffer C, Hahn G, et al. Neonatal seizures in two sisters with incontinentia pigmenti. Neuropediatrics, 2004, 35:139-142.
[8] Jewett T, Hart PS, Rao PN, et al. A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X; autosome translocation. Am J Med Genet, 1997, 69:96-97.
[9] Smahi A, Hyden-Granskog C, Peterlin B, et al. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet,1994, 3:273-278.
[10] Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The Intemational Incontinentia Pigmenti (IP) Consortium.Nature, 2000, 405:466-472.
[11] Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet,2001, 10:2171-2179.
[12] Kenwrick S, Woffendin H, Jakins T, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet,2001,69:1210-1217.
[13] Aradhya S, Bardaro T, Galgoczy P, et al. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet, 2001, 10:2557-2567.
[14] Rothwarf DM, Zandi E, Natoli G, et al. IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex. Nature, 1998, 395:297-300.
[15] DiDonato JA, Hayakawa M, Rothwarf DM, et al. A cytokine-responsive IkappaB kinase that activates the transcription factor NF-kappaB.Nature, 1997, 388:548-554.
[16] Smahi A, Courtois G, Rabia SH, et al. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet, 2002,11:2371-2375.
[17] May MJ, D'Acquisto F, Madge LA,et al. Selective inhibition of NFkappaB activation by a peptide that blocks the interaction of NEMO with the IkappaB kinase complex. Science, 2000, 289:1550-1554.
[18] Parrish JE, Scheuerle AE, Lewis RA, et al. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet, 1996, 5:1777-1783.
[19] Aradhya S, Courtois G, Rajkovic A,et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet, 2001,68:765-771.
[20] Makris C, Godfrey VL, Krahn-Senftleben G, et al. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell, 2000, 5:969-979.
[21] Rudolph D, Yeh WC, Wakeham A, et al. Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice. Genes Dev, 2000, 14:854-862.
[22] Pasparakis M, Courtois G, Hafner M, et al. TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2. Nature, 2002, 417:861-866.
[23] Li Q, Lu Q, Hwang JY, et al. IKK1-deficient mice exhibit abnormal development of skin and skeleton. Genes Dev, 1999, 13:1322-1328.