TMEM67 Gene - GeneCards | MKS3 Protein | MKS3 Antibody
2025年3月30日 · TMEM67 (Transmembrane Protein 67) is a Protein Coding gene. Diseases associated with TMEM67 include Rhyns Syndrome and Coach Syndrome 1. Among its related …
The transmembrane protein meckelin ( MKS3 ) is mutated in
2006年1月15日 · MKS3 is a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of …
Meckel-Gruber Syndrome Protein MKS3 Is Required for …
Microarray screens for genes involved in SP-C ER-associated degradation identified MKS3/TMEM67, a locus previously linked to the ciliopathy Meckel-Gruber syndrome. In this …
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in …
MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic …
Entry - #607361 - MECKEL SYNDROME, TYPE 3; MKS3 - OMIM
2013年7月19日 · Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated …
MKS3疾病数据库_MKS3疾病表征_靶点药物_疾病动物模型-RDDC …
Meckel Syndrome, Type 3, also known as meckel syndrome 3, is related to meckel syndrome, type 2 and meckel syndrome, type 4. An important gene associated with Meckel Syndrome, …
Normal Ciliogenesis Requires Synergy between the Cystic Kidney …
By analyzing mks-3 mutants, we found that ciliogenesis did not require MKS-3; instead, cilia elongated and cilia-mediated chemoreception was abnormal. Genetic analysis indicated that …
A mouse model for Meckel syndrome type 3 - PubMed
Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with …
人类 Meckel-Gruber 蛋白 Meckelin 的结构,Science Advances - X …
在这里，我们报告了人类 Meckelin（也称为 TMEM67 和 MKS3）的 3.3-Å 冷冻电子显微镜结构。 该结构揭示了一个独特的蛋白质折叠，由一个不寻常的富含半胱氨酸的结构域组成，该结构域 …
Meckel syndrome: genetics, perinatal findings, and differential ...
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, …