COL6A2

Let's find each other, support those who are looking for a cure for this disease. #col6a2 #col6cmd #colágenovi #musculardystrophy #collagenvi #colvi #col6

[COL6A2 @COL6A2]

This is a new beginning, I hope we can reach and support each other.

[COL6A2 @COL6A2]

#col6day

[COL6A2 @COL6A2]

Hope to see you on this special day. #col6day #collagenvi #collagentypevi

[COL6A2 @COL6A2]

6th June 2025 #collagenvi #col6-rd #col6

[COL6A2 @COL6A2]

@GIMJournal 🤞♥️

[Genetics in Medicine @GIMJournal]

SNVs at exon ends in COL6 genes cause exon skipping, leading to muscular dystrophies. Therapeutic approaches using specialized U1 snRNAs and allele-specific siRNAs to restore normal collagen VI production show great promise! https://t.co/MiA7nlu3Lc

[Journal of Clinical Investigation @jclinicalinvest]

Getting a stronghold on the pathogenesis in rare muscular dystrophies!

Carsten G. Bönnemann & team @NIH present a mouse model of collagen VI-related muscular dystrophy and link the ECM regulation of TGFβ with downstream skeletal muscle abnormalities: https://t.co/yaEJLoGu6f

[Virginia Arechavala @VArechavala]

@AceDistrofia @Federacion_ASEM @ASEMCatalunya @AsemAragon @DM1Steinert @DM1research @Vision_DMD @dalecandela @FUNDELA1 @DPPSpain @ParentProjectMD @joinourboys @Fundacionoelia @COL6A2 @FEDER_ONG

[Virginia Arechavala @VArechavala]

@AceDistrofia @Federacion_ASEM @ASEMCatalunya @AsemAragon @DM1Steinert @DM1research @Vision_DMD @dalecandela @FUNDELA1 @DPPSpain @ParentProjectMD @joinourboys

[Virginia Arechavala @VArechavala]

Checked bluesky, found los of scientists, but I am missing patient's associations... perhaps other researchers may invite their favourite charities over?
I'll start.. @mndassoc @MDUK_News @DuchenneDF @worldduchenne... are u on 🦋?

[COL6A2 @COL6A2]

Exercise and Play, together

[TuChFi22 @TuChFi22]

Illustration of collagen Triple helix (PDB 1K6F), Fibril, and Fiber. #Blende3d #b3d #ScienceTwitter #sciart

[Cure CMD @CureCMD]

Check out this in-depth interview with our Scientific Director, Gustavo Dziewczapolski courtesy of Collagene VI Italia! https://t.co/07cwNjXMWG

[COL6A2 @COL6A2]

Love to everyone who works

[Cure CMD @CureCMD]

Recent research update in Collagen 6-related dystrophies (COL6-RDs) project funded in part by Cure CMD. https://t.co/ZbNID7IlOa

[Cure CMD @CureCMD]

Research project updates in Collagen 6-Related Dystrophies (COL6-RD). https://t.co/kBCF777RUR

[Samuele Metti @MettiSamuele]

Happy to share our new work on @J_Cell_Sci with @F_DaRos_ !! A step forward in understanding the role of #CollagenVI in regulating muscle stem cell behaviour @BonaldoLab @DMM_Unipd @UniPadova #myotwitter #ECM💪🔬
➡️https://t.co/blZpOizBaD

[COL6A2 @COL6A2]

* Steep hills and stairs are still difficult for us.
* He is not as agile as his peers.
*I think skin damage such as wounds and fly bites heal slower than us.
* No scoliosis.

[COL6A2 @COL6A2]

My son's mutation info and our experience, ( 11 y/o)
NM_001849.4(COL6A2):c.736-6T>C
de novo single nucleotide variant
#col6a2 #colagenVI #colvi

[COL6A2 @COL6A2]

* Pectus Excavatum - the deformity, which was 2.3 cm with the vacuum device, became perfect at the end of the 10th month. In addition, as an additional benefit, longer and deeper breathing measurements were obtained.