Zobrazeno 1 - 10
of 402
pro vyhledávání: '"Progeroid syndrome"'
Publikováno v:
JA Clinical Reports, Vol 10, Iss 1, Pp 1-5 (2024)
Abstract Background Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder that presents unique challenges for anesthetic management due to its multisystemic manifestations. This r
Externí odkaz:
https://doaj.org/article/f5b36657c52340f9bd6f3c8a242df51f
Publikováno v:
Exploration of Medicine, Vol 4, Iss 5, Pp 822-838 (2023)
Progeroid syndromes are characterized by clinical signs of premature ageing, which may contain several diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford progeria syndrome, and Cockayne syndrome. These dis
Externí odkaz:
https://doaj.org/article/3ca2e96a22d74bce821f1147f5ff2d09
Autor:
Anna-Gaëlle Giguet-Valard, Astrid Monfort, Hugues Lucron, Helena Mosbah, Franck Boccara, Camille Vatier, Corinne Vigouroux, Pascale Richard, Karim Wahbi, Remi Bellance, Elisabeth Sarrazin, Jocelyn Inamo
Publikováno v:
Cardiogenetics, Vol 13, Iss 4, Pp 135-144 (2023)
The likely pathogenic variant c.407A>T p.Asp136Val of the LMNA gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated with severe aortic valve stenosis. We further describe the cardiovascular involve
Externí odkaz:
https://doaj.org/article/58d5f3827479490cab9fc522f3172001
Autor:
Raymond J. Monnat
Publikováno v:
Cells, Vol 13, Iss 13, p 1077 (2024)
James German’s work to establish the natural history and cancer risk associated with Bloom syndrome (BS) has had a strong influence on the generation of scientists and clinicians working to understand other RECQ deficiencies and heritable cancer pr
Externí odkaz:
https://doaj.org/article/466226b2086d427e8384b123f050e633
Autor:
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis
Publikováno v:
Nucleus, Vol 14, Iss 1 (2023)
ABSTRACTSeveral related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA. Prelamin A undergoes farnesylation and additional modifications a
Externí odkaz:
https://doaj.org/article/c5bee2a67c0b43ac858a3d1638630f27
Autor:
Hoi W. Wu, Ivo P. Van de Peppel, Julie W. Rutten, J. Wouter Jukema, Emmelien Aten, Ingrid M. Jazet, Tamara T. Koopmann, Daniela Q. C. M. Barge-Schaapveld, Nina Ajmone Marsan
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 3, p 86 (2024)
Mutations in the LMNA-gene can cause a variety of ‘laminopathies’. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and c
Externí odkaz:
https://doaj.org/article/7b2661c41f3e4d7c917a28c9fadb7283
Autor:
Khouloud Zayoud, Asma Chikhaoui, Ichraf Kraoua, Anis Tebourbi, Dorra Najjar, Saker Ayari, Ines Safra, Imen Kraiem, Ilhem Turki, Samia Menif, Houda Yacoub-Youssef
Publikováno v:
Cells, Vol 13, Iss 5, p 402 (2024)
Cockayne syndrome (CS) is a rare autosomal recessive disorder that affects the DNA repair process. It is a progeroid syndrome predisposing patients to accelerated aging and to increased susceptibility to respiratory infections. Here, we studied the i
Externí odkaz:
https://doaj.org/article/b1269f6cfec544049e1cc507b336d0b9
Autor:
Takayoshi Sasako, Hiroko Kadowaki, Takayuki Fujiwara, Satoshi Kodera, Issei Komuro, Takashi Kadowaki, Toshimasa Yamauchi
Publikováno v:
Journal of Diabetes Investigation, Vol 13, Iss 9, Pp 1636-1638 (2022)
ABSTRACT Leptin replacement therapy (LRT) has drastically improved the prognosis of patients with lipodystrophy, but pro‐inflammatory properties of leptin could become evident in the long term. Here, we report a 30‐year‐old Japanese woman with
Externí odkaz:
https://doaj.org/article/08c8b7181e7c445f98c5980ad026e1e6
Akademický článek
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Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Atypical progeroid syndrome (APS) is a rare type of progeroid syndrome mainly caused by heterozygous missense mutations in the LMNA (MIM 150330) gene. APS has heterogeneous clinical manifestations, and its kidney manifestations, particularly in child
Externí odkaz:
https://doaj.org/article/ddfcbbcfb41e4eb59b3207cbb3ec459d