Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?
作者信息
Paller A S
机构信息
Division of Dermatology, The Children's Memorial Hospital, Chicago, IL 60614, USA.
出版信息
Am J Pathol. 1996 Jun;148(6):1727-31.
Abstract
摘要
相似文献
1
Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?皮肤水疱的经验教训：分子机制与异常遗传模式？
Am J Pathol. 1996 Jun;148(6):1727-31.
2
3
Progress in epidermolysis bullosa: genetic classification and clinical implications.大疱性表皮松解症的进展：遗传分类及临床意义
Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):61-74. doi: 10.1002/ajmg.c.30035.
4
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.由于角蛋白14基因（KRT14）突变导致的隐性大疱性表皮松解症的临床异质性。
Clin Exp Dermatol. 2008 Nov;33(6):689-97. doi: 10.1111/j.1365-2230.2008.02858.x. Epub 2008 Aug 16.
5
Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.非赫利茨交界性大疱性表皮松解症和牙釉质发育不全中COL17A1的分析。
Int J Mol Med. 2006 Aug;18(2):333-7.
6
Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms.遗传性大疱性表皮松解症。临床特征、分子遗传学及发病机制。
Dermatol Clin. 1993 Jul;11(3):549-63.
7
Molecular basis of blistering skin diseases.水疱性皮肤病的分子基础。
Hosp Med. 1998 Jan;59(1):28-32.
8
Prenatal diagnosis of epidermolysis bullosa.
Prenat Diagn. 2006 Dec;26(13):1260-1. doi: 10.1002/pd.1603.
9
Autosomal recessive pachyonychia congenita.常染色体隐性遗传性先天性厚甲症
Arch Dermatol. 1986 Aug;122(8):919-23.
10
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.大疱性表皮松解症的产前诊断：对144例连续高危妊娠的研究。
Prenat Diagn. 2003 Jun;23(6):447-56. doi: 10.1002/pd.619.
本文引用的文献
1
2
3
Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa.皮肤基底膜带的分子复杂性。大疱性表皮松解症范例带来的启示。
Exp Dermatol. 1996 Feb;5(1):1-11. doi: 10.1111/j.1600-0625.1996.tb00086.x.
4
Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.非致死性交界性大疱性表皮松解症中LAMB3基因无义突变和错义突变的复合杂合性
J Invest Dermatol. 1996 Apr;106(4):775-7. doi: 10.1111/1523-1747.ep12346246.
5
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.一个患有全身性萎缩性良性大疱性表皮松解症的家族中，编码180-kDa大疱性类天疱疮抗原（BPAG2）的基因发生纯合缺失突变。
J Invest Dermatol. 1996 Apr;106(4):771-4. doi: 10.1111/1523-1747.ep12345821.
6
Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.第二个COL7A1突变在决定隐性营养不良性大疱性表皮松解症表型严重程度中的作用
J Invest Dermatol. 1996 Apr;106(4):766-70. doi: 10.1111/1523-1747.ep12345814.
7
Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.隐性营养不良性大疱性表皮松解症的分子基础：一例临床症状中度严重病例的基因型/表型相关性
J Invest Dermatol. 1996 Jan;106(1):119-24. doi: 10.1111/1523-1747.ep12329600.
8
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.一名患病胎儿致死性交界型大疱性表皮松解症的遗传基础：对一个家庭产前诊断的启示
Prenat Diagn. 1995 Jul;15(7):647-54. doi: 10.1002/pd.1970150710.
9
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.赫利茨交界型大疱性表皮松解症中层粘连蛋白5（LAMA3）α3链基因的纯合无义突变：对有风险胎儿的产前排除。
Genomics. 1995 Sep 1;29(1):282-4. doi: 10.1006/geno.1995.1246.
10
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.III型胶原蛋白（COL3A1）等位基因中具有异常末端的多外显子缺失导致的亲本体细胞和生殖系嵌合现象，在杂合子后代中产生了IV型埃勒斯-当洛综合征。
Am J Hum Genet. 1993 Jul;53(1):62-70.
Zotero 插件