Interesting story in this preprint.
A male infant was diagnosed with Fanconi anemia due to an X-linked frameshift mutation.
Three years later, his hematopoiesis became normal (without intervention). How?
www.medrxiv.org/content/10.1...
A male infant was diagnosed with Fanconi anemia due to an X-linked frameshift mutation.
Three years later, his hematopoiesis became normal (without intervention). How?
www.medrxiv.org/content/10.1...
Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia
Fanconi anemia is a rare inherited bone marrow failure syndrome caused by inactivation of genes in the Fanconi anemia/BRCA DNA repair pathway. We report a patient with X-linked Fanconi anemia, and aty...
www.medrxiv.org
November 5, 2025 at 8:04 AM
Interesting story in this preprint.
A male infant was diagnosed with Fanconi anemia due to an X-linked frameshift mutation.
Three years later, his hematopoiesis became normal (without intervention). How?
www.medrxiv.org/content/10.1...
A male infant was diagnosed with Fanconi anemia due to an X-linked frameshift mutation.
Three years later, his hematopoiesis became normal (without intervention). How?
www.medrxiv.org/content/10.1...
#BSGM2025 What an impressive start, Serena Nik Zainal opens the morning. The dark genome session highlights the importance of small non coding RNAs, TAADs, last exon frameshift variants and X inactivation when diagnosing and understanding rare diseases.
November 5, 2025 at 12:53 PM
#BSGM2025 What an impressive start, Serena Nik Zainal opens the morning. The dark genome session highlights the importance of small non coding RNAs, TAADs, last exon frameshift variants and X inactivation when diagnosing and understanding rare diseases.
Easily understood! You were not the only one to miss this. Deletions tend to go unnoticed. They don't show up on phylogenetic trees, and I had to manually fix an artifactual frameshift in order to get this one to appear on Nextclade.
October 22, 2025 at 1:30 PM
Easily understood! You were not the only one to miss this. Deletions tend to go unnoticed. They don't show up on phylogenetic trees, and I had to manually fix an artifactual frameshift in order to get this one to appear on Nextclade.
PSA that if you are not aligning large numbers of coding sequences with MACSE, you are doing it wrong. Frameshift awareness is absolutely crucial to avoid alignment errors even between closely related sequences.
pubmed.ncbi.nlm.nih.gov/30165589/
pubmed.ncbi.nlm.nih.gov/30165589/
October 16, 2025 at 3:13 PM
PSA that if you are not aligning large numbers of coding sequences with MACSE, you are doing it wrong. Frameshift awareness is absolutely crucial to avoid alignment errors even between closely related sequences.
pubmed.ncbi.nlm.nih.gov/30165589/
pubmed.ncbi.nlm.nih.gov/30165589/
Some well-known anti-vaxers are making claims that the ribosome slip/frameshift causes a stop codon to be missed and an own mitochondrial protein to be made, risking autoimmunity.
It´s important to know that the mRNA in COVID-19 vaccines do not contain other protein codes.
(X 6/12/2023)
1/4
It´s important to know that the mRNA in COVID-19 vaccines do not contain other protein codes.
(X 6/12/2023)
1/4
September 20, 2025 at 4:45 PM
Some well-known anti-vaxers are making claims that the ribosome slip/frameshift causes a stop codon to be missed and an own mitochondrial protein to be made, risking autoimmunity.
It´s important to know that the mRNA in COVID-19 vaccines do not contain other protein codes.
(X 6/12/2023)
1/4
It´s important to know that the mRNA in COVID-19 vaccines do not contain other protein codes.
(X 6/12/2023)
1/4
The sequence is, as always flanked by untranslated parts (UTRs) that are there for stability. And no, of course not, there are no other proteins coded behind this. That is made up. The frameshift itself causes parts to be mistranslated. Not proteins of any use. That is all.
4/4
4/4
September 20, 2025 at 4:45 PM
The sequence is, as always flanked by untranslated parts (UTRs) that are there for stability. And no, of course not, there are no other proteins coded behind this. That is made up. The frameshift itself causes parts to be mistranslated. Not proteins of any use. That is all.
4/4
4/4
Genetic recombination or programmed -1 ribosomal frameshifting (-1PRF) is the superpower of sarbecoviruses and HIV-1.
@solidevidence noticed BA.2.86 got 'ribosomal frameshift' insert VMPL from Orf1b (=ins_S:16:MPLF). That's genetic recombination. Context @realcheckmarker twitter.com/RealCheckMar...
@solidevidence noticed BA.2.86 got 'ribosomal frameshift' insert VMPL from Orf1b (=ins_S:16:MPLF). That's genetic recombination. Context @realcheckmarker twitter.com/RealCheckMar...
August 23, 2023 at 9:20 AM
Genetic recombination or programmed -1 ribosomal frameshifting (-1PRF) is the superpower of sarbecoviruses and HIV-1.
@solidevidence noticed BA.2.86 got 'ribosomal frameshift' insert VMPL from Orf1b (=ins_S:16:MPLF). That's genetic recombination. Context @realcheckmarker twitter.com/RealCheckMar...
@solidevidence noticed BA.2.86 got 'ribosomal frameshift' insert VMPL from Orf1b (=ins_S:16:MPLF). That's genetic recombination. Context @realcheckmarker twitter.com/RealCheckMar...
"dead"? How can that be? Many frameshift or stop_gained variants would have the same effect and they don't (am I missing something?)
April 2, 2025 at 1:17 PM
"dead"? How can that be? Many frameshift or stop_gained variants would have the same effect and they don't (am I missing something?)
Oh gott nicht der ribosomal frameshift again 😱
Da gabs damals auf ÄhX kollektive Schnappatmung der querschwurbelnden Selberdenker.
Ich liebs ja, wenn die Fachbegriffe aus meinem Spezialgebiet für sich entdecken 🙄
(spannende Publikation übrigens, wenn man noch alle Eppis im Schrank hat)
Da gabs damals auf ÄhX kollektive Schnappatmung der querschwurbelnden Selberdenker.
Ich liebs ja, wenn die Fachbegriffe aus meinem Spezialgebiet für sich entdecken 🙄
(spannende Publikation übrigens, wenn man noch alle Eppis im Schrank hat)
March 4, 2024 at 6:16 PM
Oh gott nicht der ribosomal frameshift again 😱
Da gabs damals auf ÄhX kollektive Schnappatmung der querschwurbelnden Selberdenker.
Ich liebs ja, wenn die Fachbegriffe aus meinem Spezialgebiet für sich entdecken 🙄
(spannende Publikation übrigens, wenn man noch alle Eppis im Schrank hat)
Da gabs damals auf ÄhX kollektive Schnappatmung der querschwurbelnden Selberdenker.
Ich liebs ja, wenn die Fachbegriffe aus meinem Spezialgebiet für sich entdecken 🙄
(spannende Publikation übrigens, wenn man noch alle Eppis im Schrank hat)
Gilla Band's Alan Duggan-Borges has shared a new The Null Club single with E L U C I D, 'Frameshift'
Gilla Band’s Alan Duggan-Borges has shared a new The Null Club single with E L U C I D, ‘Frameshift’
Gilla Band guitarist's side project The Null Club releases new single 'Frameshift' featuring rapper E L U C I D.
readdork.com
March 19, 2025 at 12:11 PM
Gilla Band's Alan Duggan-Borges has shared a new The Null Club single with E L U C I D, 'Frameshift'
Miklos is currently testing if 5-KETE, through the mucoprotective mechanism he discovered, acts as a paracrine tumor suppressor. Interestingly, the 5-KETE receptor (OXER1) is inactivated by hotspot frameshift mutations in various mucosal tumors from patients (see below).
February 10, 2025 at 6:28 PM
Miklos is currently testing if 5-KETE, through the mucoprotective mechanism he discovered, acts as a paracrine tumor suppressor. Interestingly, the 5-KETE receptor (OXER1) is inactivated by hotspot frameshift mutations in various mucosal tumors from patients (see below).
Aardvarks have enamel-less teeth & genetic data shows that this is due to inactivating mutations in 3 enamel matrix protein genes (AMEL, AMBN and EDAM) #RIP #2025MMM bmcecolevol.biomedcentral.com/articles/10....
![Timetree of edentulous and enamelless amniote taxa for which genomic sequences are available (Ensembl, PreEnsembl, NCBI) with a mapping of inferred inactivating mutations (frameshifts, premature stop codons, splice site mutations) in three EMP genes to particular branches in the tree. Branches with inactivating mutations are marked by vertical bars (pink = ENAM [E], blue = AMBN [B], green = AMEL [A]). Extinct stem taxa with teeth (Odontochelys, Ichthyornis, Eomaia) are also shown. Mutations were mapped to branches by Fitch parsimony with delayed transformation optimization. Teeth with enamel, teeth without enamel, and edentulism are denoted with black, gray, and white-filled circles, respectively, at terminal and internal nodes. In combination with fossil evidence, dN/dS ratios and frameshift mutations in ENAM suggest that enamel was lost independently in the common ancestor of Pilosa (sloths and anteaters) and in multiple armadillo lineages, including Dasypus[2]. Remnants of AMBN and ENAM were not recovered from the Pelodiscus genome. References for divergence dates and fossil ages are provided in Methods.](https://cdn.bsky.app/img/feed_thumbnail/plain/did:plc:bev7swnxdqiutawrp22zhohf/bafkreifs3rbkl6azmefod2b5iawkljxoi4nkzqv62tbj4h3ef53gm7apvq@jpeg)
March 25, 2025 at 2:05 AM
Aardvarks have enamel-less teeth & genetic data shows that this is due to inactivating mutations in 3 enamel matrix protein genes (AMEL, AMBN and EDAM) #RIP #2025MMM bmcecolevol.biomedcentral.com/articles/10....
3 movies. 1 theme. Discover this week’s essential picks for cinephiles, starting with the ever-confusing Primer. Enjoy the frameshift.
3 Must-Watch Movies for Cinephiles | Week 1 Stars Primer - Film Colossus
3 movies. 1 theme. Discover this week’s essential picks for cinephiles, starting with the ever-confusing Primer. Enjoy the frameshift.
bit.ly
July 8, 2025 at 1:00 PM
3 movies. 1 theme. Discover this week’s essential picks for cinephiles, starting with the ever-confusing Primer. Enjoy the frameshift.
When I joined the Yokota lab in Fall 2019, this was the first project I started working on.
We analyzed the cells and found that the mutation the patient carried led to DYSF exon 26 exclusion, causing a frameshift mutation and complete loss of dysferlin protein.
We analyzed the cells and found that the mutation the patient carried led to DYSF exon 26 exclusion, causing a frameshift mutation and complete loss of dysferlin protein.
February 8, 2025 at 11:24 AM
When I joined the Yokota lab in Fall 2019, this was the first project I started working on.
We analyzed the cells and found that the mutation the patient carried led to DYSF exon 26 exclusion, causing a frameshift mutation and complete loss of dysferlin protein.
We analyzed the cells and found that the mutation the patient carried led to DYSF exon 26 exclusion, causing a frameshift mutation and complete loss of dysferlin protein.
The evolution and functional significance of the programmed ribosomal frameshift in prfB https://www.biorxiv.org/content/10.1101/2024.09.24.614795v1
The evolution and functional significance of the programmed ribosomal frameshift in prfB https://www.biorxiv.org/content/10.1101/2024.09.24.614795v1
Release Factor 2 (RF2) is one of two peptide release factors that terminate translation in bacteria.
www.biorxiv.org
September 25, 2024 at 1:16 PM
The evolution and functional significance of the programmed ribosomal frameshift in prfB https://www.biorxiv.org/content/10.1101/2024.09.24.614795v1
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder
GPKOW, a gene on the X-chromosome, encodes a nuclear RNA-binding protein important in mRNA processing as a spliceosome subunit. This work aims to esta…
www.sciencedirect.com
April 11, 2025 at 9:20 AM
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
After 1 year a biopsy was obtained from the monkeys. This revealed that one monkey was mosaic - I anticipate this was the female monkey with 2 different mutations (not the same as a mosaic). The other monkeys all had one mutation. All mutations caused a frameshift, in 1 case an exon 50 deletion.
April 29, 2025 at 7:46 AM
After 1 year a biopsy was obtained from the monkeys. This revealed that one monkey was mosaic - I anticipate this was the female monkey with 2 different mutations (not the same as a mosaic). The other monkeys all had one mutation. All mutations caused a frameshift, in 1 case an exon 50 deletion.
I think she's fallen for the frameshift the same way her cis counterparts in the middle. If Sarah McBride COULD choose between being trans & being a milquetoast centrist, she would pick milquetoast centrist 100 times out of 100. And that demographic is SUPER susceptible to rightwing lens setting.
July 7, 2025 at 3:01 AM
I think she's fallen for the frameshift the same way her cis counterparts in the middle. If Sarah McBride COULD choose between being trans & being a milquetoast centrist, she would pick milquetoast centrist 100 times out of 100. And that demographic is SUPER susceptible to rightwing lens setting.
Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach https://www.biorxiv.org/content/10.1101/2025.08.31.673354v1
September 3, 2025 at 11:33 PM
Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach https://www.biorxiv.org/content/10.1101/2025.08.31.673354v1
MyPOV: NEW Big Idea from @rwang0: Ray’s Law on #AI Intelligence ⚡As intelligence doubles, business models break and reform. Boards, execs & investors face a massive frameshift. The future belongs to those who can scale with AI's exponential rise. 🔍 Read more: bit.ly/3GvoShC
Ray’s Law on AI Intelligence
Executive Summary The artificial intelligence (AI) revolution is moving at an exponential pace that will exceed human comprehension. Technology leaders need to shift from linear thinking to geometrica...
bit.ly
July 26, 2025 at 5:26 PM
MyPOV: NEW Big Idea from @rwang0: Ray’s Law on #AI Intelligence ⚡As intelligence doubles, business models break and reform. Boards, execs & investors face a massive frameshift. The future belongs to those who can scale with AI's exponential rise. 🔍 Read more: bit.ly/3GvoShC
Big Shot-Billy Joel
This Road-Oceans Of Slumber
Maggot Brain-Funkadelic
The Skies Will Break-Corine Bailey Rae
Am I Evil (cover)-METALLICA
Spiders-Frameshift
Cloud Nine- The Temptations
Fight The Power-The Isley Brothers
Die Young-Black Sabbath
Precious Time-Pat Benatar
Save A Prayer- Duran Duran
This Road-Oceans Of Slumber
Maggot Brain-Funkadelic
The Skies Will Break-Corine Bailey Rae
Am I Evil (cover)-METALLICA
Spiders-Frameshift
Cloud Nine- The Temptations
Fight The Power-The Isley Brothers
Die Young-Black Sabbath
Precious Time-Pat Benatar
Save A Prayer- Duran Duran
2. If you were creating a soundtrack to your life, what songs would be on it?
August 5, 2025 at 6:31 PM
Big Shot-Billy Joel
This Road-Oceans Of Slumber
Maggot Brain-Funkadelic
The Skies Will Break-Corine Bailey Rae
Am I Evil (cover)-METALLICA
Spiders-Frameshift
Cloud Nine- The Temptations
Fight The Power-The Isley Brothers
Die Young-Black Sabbath
Precious Time-Pat Benatar
Save A Prayer- Duran Duran
This Road-Oceans Of Slumber
Maggot Brain-Funkadelic
The Skies Will Break-Corine Bailey Rae
Am I Evil (cover)-METALLICA
Spiders-Frameshift
Cloud Nine- The Temptations
Fight The Power-The Isley Brothers
Die Young-Black Sabbath
Precious Time-Pat Benatar
Save A Prayer- Duran Duran
🚨 NEW Big Idea from @rwang0: Ray’s Law on #AI Intelligence ⚡As intelligence doubles, business models break and reform. Boards, execs & investors face a massive frameshift. The future belongs to those who can scale with AI's exponential rise. 🔍 Read more: bit.ly/3GvoShC
Ray’s Law on AI Intelligence
Executive Summary The artificial intelligence (AI) revolution is moving at an exponential pace that will exceed human comprehension. Technology leaders need to shift from linear thinking to…
bit.ly
July 25, 2025 at 11:50 PM
🚨 NEW Big Idea from @rwang0: Ray’s Law on #AI Intelligence ⚡As intelligence doubles, business models break and reform. Boards, execs & investors face a massive frameshift. The future belongs to those who can scale with AI's exponential rise. 🔍 Read more: bit.ly/3GvoShC
Follow up tests showed a single nucleotide insertion in exon 11 of BRCA2. A frameshift! Upstream of the DNA-binding domain, even. A textbook pathogenic mutation if I’ve ever seen one.
September 10, 2025 at 3:36 PM
Follow up tests showed a single nucleotide insertion in exon 11 of BRCA2. A frameshift! Upstream of the DNA-binding domain, even. A textbook pathogenic mutation if I’ve ever seen one.
Und Props für den kreativen split luciferase Assay, mit dem sie den Frameshift nachgewiesen haben.
March 4, 2024 at 6:12 PM
Und Props für den kreativen split luciferase Assay, mit dem sie den Frameshift nachgewiesen haben.
My first completed web serial was initially called "Yet Another Godsforsaken Isekai" because it started out as a spitefic and when it became something more earnest in its own right one of my readers suggested "Frameshift" and it just... stuck, honestly.
"Borrowed my readers' brains" ftw.
"Borrowed my readers' brains" ftw.
February 17, 2025 at 4:33 AM
My first completed web serial was initially called "Yet Another Godsforsaken Isekai" because it started out as a spitefic and when it became something more earnest in its own right one of my readers suggested "Frameshift" and it just... stuck, honestly.
"Borrowed my readers' brains" ftw.
"Borrowed my readers' brains" ftw.