Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair

Mehmood Sabba; Jan Abid; Muhammad Dost; Ahmad Farooq; Mir Hina; Younus Muhammad; Ali Ghazanfar; Ayub Muhammad; Ansar Muhammad; Ahmad Wasim

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Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair

机译：脂肪酶H基因突变导致常染色体隐性遗传不足和毛发稀疏

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Hypotrichosis is characterised by sparse scalp hair, sparse to absent eyebrows and eyelashes, or absence of hair from other parts of the body. In few cases, the condition is associated with tightly curled woolly scalp hair. The present study searched for disease-causing sequence variants in the genes in four Pakistani lineal consanguineous families exhibiting features of hypotrichosis or woolly hair. A haplotype analysis established links in all four families to the LIPH gene located on chromosome 3q27.2. Subsequently, sequencing LIPH identified a novel non-sense mutation (c.328C>T; p.Arg110*) in one and a previously reported 2-bp deletion mutation (c.659_660delTA, p.Ile220ArgfsX29) in three other families.

机译：发育不全的特征是头皮头发稀疏，眉毛和睫毛稀疏，或身体其他部位没有头发。在少数情况下，这种情况与卷曲的羊毛头皮头发紧密相关。本研究在四个表现出垂毛病或毛发特征的巴基斯坦直系近亲家庭的基因中寻找引起疾病的序列变异。单体型分析建立了所有四个家族与位于染色体3q27.2上的LIPH基因的联系。随后，测序LIPH在一个家族中鉴定出一个新的无义突变（c.328C> T; p.Arg110 *），并在其他三个家族中鉴定出先前报道的2-bp缺失突变（c.659_660delTA，p.Ile220ArgfsX29）。

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来源
《The Australasian journal of dermatology》 |2015年第3期|共5页
作者
Mehmood Sabba; Jan Abid; Muhammad Dost; Ahmad Farooq; Mir Hina; Younus Muhammad; Ali Ghazanfar; Ayub Muhammad; Ansar Muhammad; Ahmad Wasim;
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正文语种 eng
中图分类皮肤病学与性病学;
关键词
autosomal recessive hypotrichosis; LIPH gene; novel and recurrent mutation; woolly hair;

机译：常染色体隐性遗传不足;LIPH基因;新突变和复发突变;毛状;

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1. Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair [J] . Mehmood Sabba, Jan Abid, Muhammad Dost, The Australasian journal of dermatology . 2015,第3期

机译：脂肪酶H基因突变导致常染色体隐性遗传不足和毛发稀疏
2. Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. [J] . Shimomura Y, Garzon MC, Kristal L, Experimental dermatology . 2009,第3期

机译：由P2RY5基因中的一个新的纯合突变引起的常染色体隐性隐性羊毛毛发低发症。
3. Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. [J] . Horev L, Babay S, Ramot Y, British Journal of Dermatology . 2011,第5期

机译：由于两种罕见的皮肤病：KLICK和常染色体隐性隐性毛发/ hyperrichosis，导致13号染色体上两个基因的突变导致复杂的头发和皮肤表型。
4. Autosomal recessive hypercholesterolemia: genetics and clinical aspects [C] . Giovanni Zuliani, Renato Fellin European Symposium on Metabolism . 2003

机译：常染色体隐性高胆固醇血症：遗传学和临床方面
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene [O] . Yutaka Shimomura, Maria C. Garzon, Angela M. Christiano -1

机译：由P2RY5基因的一个新的纯合突变引起的常染色体隐性毛发低发症
7. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles [O] . Nikolay V. Zernov, Mikhail Y. Skoblov, Andrey V. Marakhonov, 2016

机译：常染色体隐性腹腔异血，羊毛毛发引起的毛囊中的角蛋白25基因突变引起

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair

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