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About 225 results

ALLMedicine™ Distal Arthrogryposis Center

Research & Reviews  88 results

Characterizing the lipid fingerprint of the mechanosensitive channel Piezo2.
https://doi.org/10.1085/jgp.202113064
The Journal of General Physiology; Lin Y, Buyan A et. al.

Jul 22nd, 2022 - Piezo2 is a mechanosensitive ion channel that plays critical roles in sensing touch and pain, proprioception, and regulation of heart rate. Global knockout of Piezo2 leads to perinatal lethality in mice, and Piezo2 gain-of-function mutations are a...

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
https://clinicaltrials.gov/ct2/show/NCT05419245

Jul 19th, 2022 - According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall syndrome and distal arthrogryposis (DA) types 3 a...

PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generati...
https://doi.org/10.1002/ajmg.a.62868
American Journal of Medical Genetics. Part A; Sherlaw-Sturrock CA, Willis T et. al.

Jun 15th, 2022 - Arthrogryposis is a heterogenous condition with a wide variety of etiological causes. It has been subdivided clinically based on the presence of additional features. Dominant gain of function (GoF) pathogenic variants in PIEZO2 have been associate...

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
https://clinicaltrials.gov/ct2/show/NCT05393375

May 26th, 2022 - Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint contractures at two or more distinct joint levels at birth. More than 400 causes are currently known. The prevalence is estimated at 1/3000 to 1/2000. Join...

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia...
https://doi.org/10.1016/j.nmd.2022.03.007
Neuromuscular Disorders : NMD; Kamien B, Clayton JS et. al.

Apr 29th, 2022 - Arthrogryposis is a consequence of reduced fetal movements and arises due to environmental factors or underlying genetic defects, with extensive genetic heterogeneity. In many instances, the genes responsible are involved in neuromuscular function...

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Clinicaltrials.gov  2 results

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
https://clinicaltrials.gov/ct2/show/NCT05419245

Jul 19th, 2022 - According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall syndrome and distal arthrogryposis (DA) types 3 a...

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
https://clinicaltrials.gov/ct2/show/NCT05393375

May 26th, 2022 - Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint contractures at two or more distinct joint levels at birth. More than 400 causes are currently known. The prevalence is estimated at 1/3000 to 1/2000. Join...

see more →