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About 34 results

ALLMedicine™ Atypical Werner Syndrome Center

Research & Reviews  17 results

Atypical Werner Syndrome: Another Scleroderma-Like Fibrosing Disorder.
https://doi.org/10.1097/RHU.0000000000001500
Journal of Clinical Rheumatology : Practical Reports on R... Suárez-Díaz S, Castaño-Álvarez J et. al.

Jul 22nd, 2020 - Atypical Werner Syndrome: Another Scleroderma-Like Fibrosing Disorder.|2020|Suárez-Díaz S,Castaño-Álvarez J,Noval-Tuñón I,Coto-Hernández R,Caminal-Montero L,|

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome wi...
https://doi.org/10.1507/endocrj.EJ19-0014
Endocrine Journal; He G, Yan Z et. al.

Jul 4th, 2019 - Werner syndrome (WS) is a rare, adult-onset progeroid syndrome. Classic WS is caused by WRN mutation and partial atypical WS (AWS) is caused by LMNA mutation. A 19-year-old female patient with irregular menstruation and hyperglycemia was admitted....

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910873
Proceedings of the National Academy of Sciences of the Un... DuBose AJ, Lichtenstein ST et. al.

Mar 27th, 2018 - LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss musc...

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodys...
https://doi.org/10.1507/endocrj.EJ17-0287
Endocrine Journal; Sasaki H, Yanagi K et. al.

Dec 4th, 2017 - Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present...

Skin Disease in Laminopathy-Associated Premature Aging.
https://doi.org/10.1038/jid.2015.295
The Journal of Investigative Dermatology; McKenna T, Sola Carvajal A et. al.

Aug 20th, 2015 - The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes Hut...

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Clinicaltrials.gov  17 results

Atypical Werner Syndrome: Another Scleroderma-Like Fibrosing Disorder.
https://doi.org/10.1097/RHU.0000000000001500
Journal of Clinical Rheumatology : Practical Reports on R... Suárez-Díaz S, Castaño-Álvarez J et. al.

Jul 22nd, 2020 - Atypical Werner Syndrome: Another Scleroderma-Like Fibrosing Disorder.|2020|Suárez-Díaz S,Castaño-Álvarez J,Noval-Tuñón I,Coto-Hernández R,Caminal-Montero L,|

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome wi...
https://doi.org/10.1507/endocrj.EJ19-0014
Endocrine Journal; He G, Yan Z et. al.

Jul 4th, 2019 - Werner syndrome (WS) is a rare, adult-onset progeroid syndrome. Classic WS is caused by WRN mutation and partial atypical WS (AWS) is caused by LMNA mutation. A 19-year-old female patient with irregular menstruation and hyperglycemia was admitted....

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910873
Proceedings of the National Academy of Sciences of the Un... DuBose AJ, Lichtenstein ST et. al.

Mar 27th, 2018 - LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss musc...

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodys...
https://doi.org/10.1507/endocrj.EJ17-0287
Endocrine Journal; Sasaki H, Yanagi K et. al.

Dec 4th, 2017 - Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present...

Skin Disease in Laminopathy-Associated Premature Aging.
https://doi.org/10.1038/jid.2015.295
The Journal of Investigative Dermatology; McKenna T, Sola Carvajal A et. al.

Aug 20th, 2015 - The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes Hut...

see more →