Biology of KAL1 and its orthologs: implications for X-linked Kallmann syndrome and the search for novel candidate genes.
Biology of KAL1 and its orthologs: implications for X-linked Kallmann syndrome and the search for novel candidate genes.
复制标题
KAL1 及其直向同源物的生物学：对 X 连锁卡尔曼综合征的影响和寻找新的候选基因。
DOI：
10.1159/000312694
复制
发表时间：
2010
影响因子：
--
通讯作者：
Bulow,HannesE
中科院分区：
文献类型：
--
作者：
MacColl,GavinS;Quinton,Richard;Bulow,HannesE
Kallmann syndrome is characterised by congenital hypogonadotropic hypogonadism and anosmia, sometimes with other non-reproductive defects. Although multiple genetic pathways are now known to be involved in the development of this disorder, KAL1, the gene causing the X-linked form of Kallmann syndrome was the first to be identified. It has thus been extensively studied both in vitro and in vivo, though the absence of an identifiable murine ortholog has denied researchers the opportunity to create and study Kal-1 knock-out mice. This review looks at several studies in species with a kal-1 ortholog, revealing functional similarities with the human disorder. Further work has shown that the kal-1 domain structure is maintained across genera, that it controls similar morphological and cellular processes during development, and that data from the nematode Caenorhabditis elegans, in particular, may point to novel human candidate genes. Copyright© 2010 S. Karger AG, Basel
登录
查看更多内容
影响因子：
3.9
作者：
Albuisson, Juliette;Pecheux, Chistophe;Dode, Catherine
通讯作者：
Dode, Catherine
由于 KAL 基因缺失，患有卡尔曼综合征的同胞中性腺功能减退症的外显率存在差异。
DOI：
10.1002/ajmg.1320570323
发表时间：
1995
期刊：
American journal of medical genetics
影响因子：
--
作者：
Parenti,G;Rizzolo,MG;Ghezzi,M;DiMaio,S;Sperandeo,MP;Incerti,B;Franco,B;Ballabio,A;Andria,G
通讯作者：
Andria,G
基因表达模式 X 染色体连锁卡尔曼综合征背后的 KAL-1 基因的两个 zebra ® 短直系同源物的表征
DOI：
--
发表时间：
1999
期刊：
影响因子：
--
作者：
Olivier Ardouina;Renaud Legouisa;Laurent Fasanob;Brigitte David;Henri Kornc;Jean;Christine Petita
通讯作者：
Christine Petita
DOI：
10.1210/jcem.86.4.7420
发表时间：
2001-03
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
L. M. B. Oliveira;S. Seminara;Milena Beranova;F. Hayes;Sarah B. Valkenburgh;E. Schipani;E. Costa;A. Latronico;W. Crowley;Mario Vallejo
通讯作者：
L. M. B. Oliveira;S. Seminara;Milena Beranova;F. Hayes;Sarah B. Valkenburgh;E. Schipani;E. Costa;A. Latronico;W. Crowley;Mario Vallejo
KAL 是卡尔曼综合征中的一个突变基因，在人类发育的前三个月表达
影响因子：
4.1
作者：
V. Duke;P. Winyard;P. Thorogood;P. Soothill;P. Bouloux;A. Woolf
通讯作者：
A. Woolf