Henlo, meims Name ist Sanftwut. Bims bekannt aus Filmen wie PMS und PMS2, die Rache. 🥰
April 10, 2025 at 12:16 PM
Henlo, meims Name ist Sanftwut. Bims bekannt aus Filmen wie PMS und PMS2, die Rache. 🥰
New study from the lab @hannahtrost.bsky.social Functions of PMS2 and MLH1 important for regulation of divergent repea... www.sciencedirect.com/science/arti...
Functions of PMS2 and MLH1 important for regulation of divergent repeat-mediated deletions
Repeat-mediated deletions (RMDs) are a type of deletion rearrangement that utilizes two repetitive elements to bridge a DNA double-strand break (DSB) …
www.sciencedirect.com
November 29, 2024 at 2:17 PM
New study from the lab @hannahtrost.bsky.social Functions of PMS2 and MLH1 important for regulation of divergent repea... www.sciencedirect.com/science/arti...
Momentálně se zabývám genem jménem PMS2.
Twin Peaks občas vidím ve všem, ale tady je to fakt jednoduchý:
PMS2 má svýho zlýho doppelgängera, pseudogen PMS2CL, kterej je orientovanej zrcadlově.
Mutace v PMS2 způsobujou Lynchův syndrom.
Twin Peaks občas vidím ve všem, ale tady je to fakt jednoduchý:
PMS2 má svýho zlýho doppelgängera, pseudogen PMS2CL, kterej je orientovanej zrcadlově.
Mutace v PMS2 způsobujou Lynchův syndrom.
December 21, 2024 at 4:02 PM
Momentálně se zabývám genem jménem PMS2.
Twin Peaks občas vidím ve všem, ale tady je to fakt jednoduchý:
PMS2 má svýho zlýho doppelgängera, pseudogen PMS2CL, kterej je orientovanej zrcadlově.
Mutace v PMS2 způsobujou Lynchův syndrom.
Twin Peaks občas vidím ve všem, ale tady je to fakt jednoduchý:
PMS2 má svýho zlýho doppelgängera, pseudogen PMS2CL, kterej je orientovanej zrcadlově.
Mutace v PMS2 způsobujou Lynchův syndrom.
May 24, 2026 at 9:55 PM
C01.06 - Stefano Facchini - Gene-pseudogene inversions as a source of missing heritability.
Using long-read (@nanopore)
- historic known IDS1/2 Hunter
- PMS2 (Lynch syn) & SORD (CMT) strong candidates for missing diagnoses
- SORD inversion found frequent but cryptic
#ESHG2025
Using long-read (@nanopore)
- historic known IDS1/2 Hunter
- PMS2 (Lynch syn) & SORD (CMT) strong candidates for missing diagnoses
- SORD inversion found frequent but cryptic
#ESHG2025
May 24, 2025 at 9:57 AM
C01.06 - Stefano Facchini - Gene-pseudogene inversions as a source of missing heritability.
Using long-read (@nanopore)
- historic known IDS1/2 Hunter
- PMS2 (Lynch syn) & SORD (CMT) strong candidates for missing diagnoses
- SORD inversion found frequent but cryptic
#ESHG2025
Using long-read (@nanopore)
- historic known IDS1/2 Hunter
- PMS2 (Lynch syn) & SORD (CMT) strong candidates for missing diagnoses
- SORD inversion found frequent but cryptic
#ESHG2025
May 11, 2026 at 3:51 AM
Striking similarity of some of the genetic signals in mismatch repair genes (MSH3, FAN1 and PMS2) between GWAS of somatic expansion of CAG repeats in TCF4 gene (estimated from UKB WGS data) & GWAS of age at onset of cognitive changes in Huntington's.
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
November 28, 2024 at 1:43 PM
Striking similarity of some of the genetic signals in mismatch repair genes (MSH3, FAN1 and PMS2) between GWAS of somatic expansion of CAG repeats in TCF4 gene (estimated from UKB WGS data) & GWAS of age at onset of cognitive changes in Huntington's.
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Thank you! ❤️ I have Lynch Syndrome (mutation of the PMS2 gene, paternal family history of colorectal cancer). Again, thank you.
📌
📌
September 16, 2025 at 5:42 PM
Thank you! ❤️ I have Lynch Syndrome (mutation of the PMS2 gene, paternal family history of colorectal cancer). Again, thank you.
📌
📌
#LegacyContent Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data. Authors from @isciiisalud.bsky.social
#OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00118-1/fulltext
#OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00118-1/fulltext
August 13, 2025 at 7:15 PM
#LegacyContent Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data. Authors from @isciiisalud.bsky.social
#OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00118-1/fulltext
#OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00118-1/fulltext
So many great talks and posters to see at #ASHG23 #ASHG2023! Here are a few from my group. Thurs 11:15AM (session 23), postdoc Seba Vishnopolska will present a deep mutational scan of a key #LynchSyndrome factor PMS2. 1/5
November 1, 2023 at 6:53 PM
So many great talks and posters to see at #ASHG23 #ASHG2023! Here are a few from my group. Thurs 11:15AM (session 23), postdoc Seba Vishnopolska will present a deep mutational scan of a key #LynchSyndrome factor PMS2. 1/5
RAC9306. EVG & Discussion. I thought this was a mitotic sebaceoma / sebaceous adenoma. MSH6 & PMS2 requested. So far been sceptical about clear-cut Seb Ca & MTS. See a lot mitotically active lesions erroneously called carcinoma.
October 27, 2025 at 3:58 PM
RAC9306. EVG & Discussion. I thought this was a mitotic sebaceoma / sebaceous adenoma. MSH6 & PMS2 requested. So far been sceptical about clear-cut Seb Ca & MTS. See a lot mitotically active lesions erroneously called carcinoma.
Několik měsíců se zabývám problémy s bioinformatickým genotypováním PMS2 a jeho pseudogenu, a teďka zazněla suggestion, že bych se moh zabývat i PRSS1.
Inu, na PMS a PRSS jsem samozřejmě značný expert i mimo pole bioinformatiky.
Inu, na PMS a PRSS jsem samozřejmě značný expert i mimo pole bioinformatiky.
April 24, 2025 at 8:40 AM
Několik měsíců se zabývám problémy s bioinformatickým genotypováním PMS2 a jeho pseudogenu, a teďka zazněla suggestion, že bych se moh zabývat i PRSS1.
Inu, na PMS a PRSS jsem samozřejmě značný expert i mimo pole bioinformatiky.
Inu, na PMS a PRSS jsem samozřejmě značný expert i mimo pole bioinformatiky.
PMS2週間くらい続いてて過去最高のひどさでゲキアツすぎる
November 3, 2025 at 5:50 AM
PMS2週間くらい続いてて過去最高のひどさでゲキアツすぎる
これをみるとぶちょう、2022年にはもうあったんだな
ひょっとしてあおいはろうきゅう化……
album.omoshiro-joho.com/pms2/detail/...
omoshiro-joho.com/d/prof/wp/?p...
ひょっとしてあおいはろうきゅう化……
album.omoshiro-joho.com/pms2/detail/...
omoshiro-joho.com/d/prof/wp/?p...
February 26, 2024 at 4:06 PM
これをみるとぶちょう、2022年にはもうあったんだな
ひょっとしてあおいはろうきゅう化……
album.omoshiro-joho.com/pms2/detail/...
omoshiro-joho.com/d/prof/wp/?p...
ひょっとしてあおいはろうきゅう化……
album.omoshiro-joho.com/pms2/detail/...
omoshiro-joho.com/d/prof/wp/?p...
But why is MLH1 in the cytoplasm given it's a DNA repair protein? We found that MLH1 missense mutations found in patient tumors can induce cyto localization by preventing MLH1 binding to PMS2 which is required to expose its NLS. Low levels of PMS2 have the same effect /3
December 15, 2025 at 6:14 PM
But why is MLH1 in the cytoplasm given it's a DNA repair protein? We found that MLH1 missense mutations found in patient tumors can induce cyto localization by preventing MLH1 binding to PMS2 which is required to expose its NLS. Low levels of PMS2 have the same effect /3
CW: Cancer
So I found out last week that I have a mutated PMS2 gene, which basically means I have a 9-20% increased chance of developing colon cancer. I am fine, fyi. Sterling bloodwork recently. Healthiest I've ever been. Really, it just gets me early screening. Which is awesome!
So I found out last week that I have a mutated PMS2 gene, which basically means I have a 9-20% increased chance of developing colon cancer. I am fine, fyi. Sterling bloodwork recently. Healthiest I've ever been. Really, it just gets me early screening. Which is awesome!
October 15, 2025 at 5:20 PM
CW: Cancer
So I found out last week that I have a mutated PMS2 gene, which basically means I have a 9-20% increased chance of developing colon cancer. I am fine, fyi. Sterling bloodwork recently. Healthiest I've ever been. Really, it just gets me early screening. Which is awesome!
So I found out last week that I have a mutated PMS2 gene, which basically means I have a 9-20% increased chance of developing colon cancer. I am fine, fyi. Sterling bloodwork recently. Healthiest I've ever been. Really, it just gets me early screening. Which is awesome!
RAC9306: EVG & Commentry. Then MSH6 (loss) & PMS2. Advised referral to medical genetics to rule out Muir Torre Syndrome (familial cancer associated syndrome).
November 4, 2025 at 7:05 AM
RAC9306: EVG & Commentry. Then MSH6 (loss) & PMS2. Advised referral to medical genetics to rule out Muir Torre Syndrome (familial cancer associated syndrome).
We identify nine high-confident regions (including the well-known TERT, TP53 and PMS2 genes) where in three independent cohorts we find significant enrichment of non-coding mutations and where we can also confirm that these mutations show actual effects on gene expression levels. (9/16)
May 7, 2025 at 7:04 AM
We identify nine high-confident regions (including the well-known TERT, TP53 and PMS2 genes) where in three independent cohorts we find significant enrichment of non-coding mutations and where we can also confirm that these mutations show actual effects on gene expression levels. (9/16)
New 4lfa.com ic is up.
4lfa.com/comic/pms2/2...
It's not just free Ick — It's also very questionable Com.
#pixelart #webcomic
4lfa.com/comic/pms2/2...
It's not just free Ick — It's also very questionable Com.
#pixelart #webcomic
April 26, 2026 at 9:48 PM
New 4lfa.com ic is up.
4lfa.com/comic/pms2/2...
It's not just free Ick — It's also very questionable Com.
#pixelart #webcomic
4lfa.com/comic/pms2/2...
It's not just free Ick — It's also very questionable Com.
#pixelart #webcomic
RRIDs were included in this in European Journal of Human Genetics paper. Thanks for making your methods matter! #OpenResearch #OpenScience #BetterScience
Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants - European Journal of Human Genetics
Read the full paper: Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants
doi.org
April 3, 2026 at 7:02 AM
RRIDs were included in this in European Journal of Human Genetics paper. Thanks for making your methods matter! #OpenResearch #OpenScience #BetterScience
This looks like an exciting development for treating cancer👇
Pharmacological inhibition of PMS2 induces MMR deficiency and response to immune checkpoint blockade
aacrjournals.org/cancerdiscov...
Pharmacological inhibition of PMS2 induces MMR deficiency and response to immune checkpoint blockade
aacrjournals.org/cancerdiscov...
Pharmacological inhibition of PMS2 induces MMR deficiency and response to immune checkpoint blockade
Abstract. DNA mismatch repair (MMR) detects and corrects post-replicative DNA alterations; it is deregulated in up to 20% of human cancers. MMR-deficient (MMR-d) cancers display increased tumour mutat...
aacrjournals.org
April 23, 2026 at 9:18 PM
This looks like an exciting development for treating cancer👇
Pharmacological inhibition of PMS2 induces MMR deficiency and response to immune checkpoint blockade
aacrjournals.org/cancerdiscov...
Pharmacological inhibition of PMS2 induces MMR deficiency and response to immune checkpoint blockade
aacrjournals.org/cancerdiscov...
SL-PMS2.ANS, 1995-01-24 from dark domain - the artpacks.acid.org collection (CD-ROM)
July 10, 2026 at 3:45 PM
SL-PMS2.ANS, 1995-01-24 from dark domain - the artpacks.acid.org collection (CD-ROM)
Bart van der Sanden (Radboudumc)
Paraphase alignment / variant caller (PacBio HiFi)
Solved 125 variants in paralagous genes Vs 95
Standard HiFi
11 genes, but might replace 134 locus-specific assays - requires good coverage
www.cell.com/ajhg/abstrac...
#ESHG2026 #IKBKG #PKD1 #PMS2
Paraphase alignment / variant caller (PacBio HiFi)
Solved 125 variants in paralagous genes Vs 95
Standard HiFi
11 genes, but might replace 134 locus-specific assays - requires good coverage
www.cell.com/ajhg/abstrac...
#ESHG2026 #IKBKG #PKD1 #PMS2
June 14, 2026 at 9:03 AM
Bart van der Sanden (Radboudumc)
Paraphase alignment / variant caller (PacBio HiFi)
Solved 125 variants in paralagous genes Vs 95
Standard HiFi
11 genes, but might replace 134 locus-specific assays - requires good coverage
www.cell.com/ajhg/abstrac...
#ESHG2026 #IKBKG #PKD1 #PMS2
Paraphase alignment / variant caller (PacBio HiFi)
Solved 125 variants in paralagous genes Vs 95
Standard HiFi
11 genes, but might replace 134 locus-specific assays - requires good coverage
www.cell.com/ajhg/abstrac...
#ESHG2026 #IKBKG #PKD1 #PMS2
💥 Recent studies indicate that combining polygenic risk scores (PRS) with carrier status for germline pathogenic variants in #colorectalcancer genes, such as MLH1, MSH2, MSH6, and PMS2, enhances CRC #prediction.
buff.ly/ZMD7LEF
#CanSky #OncSky
buff.ly/ZMD7LEF
#CanSky #OncSky
March 12, 2025 at 5:00 PM
💥 Recent studies indicate that combining polygenic risk scores (PRS) with carrier status for germline pathogenic variants in #colorectalcancer genes, such as MLH1, MSH2, MSH6, and PMS2, enhances CRC #prediction.
buff.ly/ZMD7LEF
#CanSky #OncSky
buff.ly/ZMD7LEF
#CanSky #OncSky