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About 86 results

ALLMedicine™ Schwartz-jampel Syndrome Center

Research & Reviews  43 results

Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural cr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7938484
BMC Developmental Biology; Castellanos BS, Reyes-Nava NG et. al.

Mar 8th, 2021 - Heparan sulfate proteoglycan 2 (HSPG2) encodes for perlecan, a large proteoglycan that plays an important role in cartilage formation, cell adhesion, and basement membrane stability. Mutations in HSPG2 have been associated with Schwartz-Jampel Syn...

Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome.
https://doi.org/10.1016/j.jaapos.2020.10.009
Journal of AAPOS : the Official Publication of the Americ... Ding J, Xu Y et. al.

Feb 18th, 2021 - We report the case of a 5-year-old boy with progressive bilateral blepharospasm and blepharophimosis secondary to Schwartz-Jampel syndrome type 1A. Molecular findings confirmed two novel heterozygous mutations in the HSPG2 gene. After the patient ...

Successful treatment of a child with Schwartz-Jampel syndrome using rapid maxillary exp...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927341
Journal of Clinical Sleep Medicine : JCSM : Official Publ... Peanchitlertkajorn S, Assawakawintip T et. al.

Nov 24th, 2020 - We reported an 8-year-old male patient with Schwartz-Jampel syndrome, severe obstructive sleep apnea, constricted maxilla and moderate tonsillar hypertrophy. The syndrome is characterized by myotonia, skeletal dysplasia, and facial dysmorphism. CP...

Perlecan/Hspg2 deficiency impairs bone's calcium signaling and associated transcriptome...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945981
Bone Pei S, Parthasarathy S et. al.

Nov 12th, 2019 - Perlecan, a heparan sulfate proteoglycan, acts as a mechanical sensor for bone to detect external loading. Deficiency of perlecan increases the risk of osteoporosis in patients with Schwartz-Jampel Syndrome (SJS) and attenuates loading-induced bon...

Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A ca...
https://doi.org/10.3892/mmr.2018.9143
Molecular Medicine Reports; Yan W, Dai J et. al.

Jun 14th, 2018 - Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disease caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2; also known as basement membrane‑specific heparin sulfate). In the present study, a 10‑year‑old fema...

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Clinicaltrials.gov  43 results

Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural cr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7938484
BMC Developmental Biology; Castellanos BS, Reyes-Nava NG et. al.

Mar 8th, 2021 - Heparan sulfate proteoglycan 2 (HSPG2) encodes for perlecan, a large proteoglycan that plays an important role in cartilage formation, cell adhesion, and basement membrane stability. Mutations in HSPG2 have been associated with Schwartz-Jampel Syn...

Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome.
https://doi.org/10.1016/j.jaapos.2020.10.009
Journal of AAPOS : the Official Publication of the Americ... Ding J, Xu Y et. al.

Feb 18th, 2021 - We report the case of a 5-year-old boy with progressive bilateral blepharospasm and blepharophimosis secondary to Schwartz-Jampel syndrome type 1A. Molecular findings confirmed two novel heterozygous mutations in the HSPG2 gene. After the patient ...

Successful treatment of a child with Schwartz-Jampel syndrome using rapid maxillary exp...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927341
Journal of Clinical Sleep Medicine : JCSM : Official Publ... Peanchitlertkajorn S, Assawakawintip T et. al.

Nov 24th, 2020 - We reported an 8-year-old male patient with Schwartz-Jampel syndrome, severe obstructive sleep apnea, constricted maxilla and moderate tonsillar hypertrophy. The syndrome is characterized by myotonia, skeletal dysplasia, and facial dysmorphism. CP...

Perlecan/Hspg2 deficiency impairs bone's calcium signaling and associated transcriptome...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945981
Bone Pei S, Parthasarathy S et. al.

Nov 12th, 2019 - Perlecan, a heparan sulfate proteoglycan, acts as a mechanical sensor for bone to detect external loading. Deficiency of perlecan increases the risk of osteoporosis in patients with Schwartz-Jampel Syndrome (SJS) and attenuates loading-induced bon...

Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A ca...
https://doi.org/10.3892/mmr.2018.9143
Molecular Medicine Reports; Yan W, Dai J et. al.

Jun 14th, 2018 - Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disease caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2; also known as basement membrane‑specific heparin sulfate). In the present study, a 10‑year‑old fema...

see more →