Cranioectodermal Dysplasia (skeletal, ectodermal, renal & liver defects) is now linked to a non-IFT gene, CILK1.
#Genetics#CED#Ciliopathy#EJHG
https://t.co/5SUUTtGJfV
New preprint!
We all know mitochondria & lysosomes depend on thousands of genes. But what about the ciliome?
👉 How many human genes actually build and regulate cilia?
https://t.co/Cbq5IAxG6I
The result: ~10% of the human genome encodes ciliary genes. This represents a Gold Standard update of known ciliary genes. Read the preprint: https://t.co/Cbq5IAx8ha
Explore the database: https://t.co/Z5DUiJGu55
Code: https://t.co/28OJEICxJX
A novel genetic cause of Cranioectodermal Dysplasia (CED) in five new cases @Abdulla97690428, @KaplanOLab
This study identifies CILK1, a non-core-IFT protein-encoding gene, as the first of its kind linked to CED.
https://t.co/5SUUTtGbqn
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Taking about diversity, equity and inclusion. So many students miss the opportunities of their life time, through visa rejections, preventing them from attending conferences. Is this the kind of European immigration policy to recruit talents to Europe ? @ItalyinIstanbul ?
A couple of months ago, I had to visit the ER due to severe pain. The team acted quickly and saved my life, and I spent 6 days in the ICU
I'm on the road to recovery now, but paper revisions are delayed as part of this necessary healing process
I was away from X during this time
We are happy to contribute to a new paper by @KaplanOLab, which generated the Ciliogenics database for predicting novel ciliary genes. @EfeBegar used localization and loss-of-function experiments to validate new ciliary proteins in mammalian cells. @NAR_Open
Our paper "CilioGenics: an integrated method and database for predicting novel ciliary genes" is out in @NAR_Open !
https://t.co/h4AQjwJiRi
A preprint of this work was posted in April 2023.
We are very excited to share the preprint from our lab:
We combined multiple datasets (scRNA-seq, comparative genomics, PPI, transcription factors based regulatory networks) for predicting novel ciliary genes
In our study, we combined multiple datasets, including single-cell RNA sequencing (scRNA-seq) from various tissues, comparative genomics, protein-protein interactions (PPI), and transcription factor-based regulatory networks.
We integrated these to provide a CilioGenics score for each human gene, assessing its potential to be a ciliary gene. In the paper, we describe several newly identified ciliary genes, such as WDR54, TMEM145, ZNF474, and ZC2HC1A.