MKS Units
نویسندگان
چکیده
منابع مشابه
MKS - MOA Musculoskeletal Monday
Patients were divided in 4 groups (Habermayer classification) and evaluated for an unstable LHBT:10 patients had superior gleno-humeral ligament (SGHL) tear (Type I),16 patients SGHL and supraspinatus (SSP) tendon tears (Type II),21 patients SGHL and subscapularis (SSC) tendon tears (Type III) and 23 patients SGHL, SSP and SSC tears (Type IV). At arthroscopy 2 patients were negative,8 patients ...
متن کاملIdentification of a novel MKS locus defined by TMEM107 mutation.
Meckel-Gruber syndrome (MKS) is a perinatally lethal disorder characterized by the triad of occipital encephalocele, polydactyly and polycystic kidneys. Typical of other disorders related to defective primary cilium (ciliopathies), MKS is genetically heterogeneous with mutations in a dozen genes to date known to cause the disease. In an ongoing effort to characterize MKS clinically and genetica...
متن کاملMAPK-Activated Protein Kinases (MKs): Novel Insights and Challenges
Downstream of MAPKs, such as classical/atypical ERKs and p38 MAPKs, but not of JNKs, signaling is often mediated by protein kinases which are phosphorylated and activated by MAPKs and, therefore, designated MAPK-activated protein kinases (MAPKAPKs). Recently, novel insights into the specificity of the assembly of MAPK/MAPKAPK hetero-dimeric protein kinase signaling complexes have been gained. I...
متن کاملMapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and cerebellar/neural tube malformation. Whether defects in kidney, retinal, or neural disease primarily involve ciliary, Hedgehog, or cell polarity pathways remains unclear. Using high-confidence proteomics, we identified 850 inte...
متن کاملNormal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.
Cilia dysfunction contributes to renal cyst formation in multiple human syndromes including nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Joubert syndrome (JBTS), and Bardet-Beidl syndrome (BBS). Although genetically heterogeneous, these diseases share several loci that affect cilia and/or basal body proteins, but the functions and interactions of these gene products are incompletely u...
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ژورنال
عنوان ژورنال: Nature
سال: 1954
ISSN: 0028-0836,1476-4687
DOI: 10.1038/174527b0