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Page 1
Disorders of IGFs and IGF-1R signaling pathways.
Forbes BE, Blyth AJ, Wit JM. Forbes BE, et al. Mol Cell Endocrinol. 2020 Dec 1;518:111035. doi: 10.1016/j.mce.2020.111035. Epub 2020 Sep 15. Mol Cell Endocrinol. 2020. PMID: 32941924 Review.
Genetics of human telomere biology disorders.
Revy P, Kannengiesser C, Bertuch AA. Revy P, et al. Nat Rev Genet. 2023 Feb;24(2):86-108. doi: 10.1038/s41576-022-00527-z. Epub 2022 Sep 23. Nat Rev Genet. 2023. PMID: 36151328 Review.
In humans, Mendelian defects in several of these factors can result in abnormally short or dysfunctional telomeres, causing a group of rare heterogeneous premature-ageing diseases, termed telomeropathies, short-telomere syndromes or telomere biology disorders (TBDs) …
In humans, Mendelian defects in several of these factors can result in abnormally short or dysfunctional telomeres, causing a group o …
SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.
Shvalb NF. Shvalb NF. Curr Diab Rep. 2022 Dec;22(12):571-577. doi: 10.1007/s11892-022-01495-8. Epub 2022 Nov 19. Curr Diab Rep. 2022. PMID: 36401775 Review.
PURPOSE OF REVIEW: This review describes the unique pathogenesis of SHORT syndrome, a rare genetic form of insulin resistance syndrome, and recent advances in understanding the underlying mechanisms. SHORT syndrome results from dysfunction of PI …
PURPOSE OF REVIEW: This review describes the unique pathogenesis of SHORT syndrome, a rare genetic form of insulin resistance …
SHORT syndrome in two Chinese girls: A case report and review of the literature.
Zhang Y, Ji B, Li J, Li Y, Zhang M, Ban B. Zhang Y, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1385. doi: 10.1002/mgg3.1385. Epub 2020 Jun 29. Mol Genet Genomic Med. 2020. PMID: 32602265 Free PMC article. Review.
BACKGROUND: SHORT syndrome is a rare inherited multisystem disease that includes characteristic facial features, growth retardation, and metabolic anomalies and is related to heterozygous mutations in the PIK3R1 gene. ...CONCLUSION: We identified two de novo heteroz …
BACKGROUND: SHORT syndrome is a rare inherited multisystem disease that includes characteristic facial features, growth retard …
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T. Masunaga Y, et al. Endocr J. 2021 Jan 28;68(1):111-117. doi: 10.1507/endocrj.EJ20-0291. Epub 2020 Sep 3. Endocr J. 2021. PMID: 32879144 Free article. Review.
SHORT syndrome is a rare developmental disorder frequently associated with growth failure and insulin resistant diabetes mellitus (IRDM). Since GH has a diabetogenic effect, GH therapy has been regarded as a contraindication. We observed a Brazilian girl with SHO …
SHORT syndrome is a rare developmental disorder frequently associated with growth failure and insulin resistant diabetes melli …
Liver Histology in Short Telomere Syndrome: A Case Report and Review of the Literature.
Bai L, Rohrer C, Liu Y. Bai L, et al. Int J Surg Pathol. 2022 May;30(3):350-355. doi: 10.1177/10668969211054102. Epub 2021 Oct 29. Int J Surg Pathol. 2022. PMID: 34714693 Review.
Short telomere syndrome (STS) encompasses a broad family of genetically inherited conditions caused by various mutations in telomerase and other telomere maintenance genes, resulting in premature telomere shortening. ...These clinical manifestations prompted an eval …
Short telomere syndrome (STS) encompasses a broad family of genetically inherited conditions caused by various mutations in te …
SHORT syndrome.
Koenig R, Brendel L, Fuchs S. Koenig R, et al. Clin Dysmorphol. 2003 Jan;12(1):45-9. doi: 10.1097/00019605-200301000-00008. Clin Dysmorphol. 2003. PMID: 12514365 Review.
We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the SHORT syndrome. ...
We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retarda …
The Role of Telomeres in Human Disease.
Armanios M. Armanios M. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:363-381. doi: 10.1146/annurev-genom-010422-091101. Epub 2022 Jun 24. Annu Rev Genomics Hum Genet. 2022. PMID: 35609925 Free PMC article. Review.
More commonly, short telomeres promote clonal hematopoiesis, including somatic reversion, providing a new leukemogenesis paradigm that is independent of genome instability. ...Through this contemporary lens, I revisit here the role of telomeres in human aging, focusing on …
More commonly, short telomeres promote clonal hematopoiesis, including somatic reversion, providing a new leukemogenesis paradigm tha …
SHORT syndrome with microcephaly and developmental delay.
Patel V, Cui W, Cobben JM. Patel V, et al. Am J Med Genet A. 2023 Mar;191(3):850-854. doi: 10.1002/ajmg.a.63078. Epub 2022 Dec 14. Am J Med Genet A. 2023. PMID: 36515361 Review.
On review of the literature, we have identified further cases of PIK3R1-related SHORT Syndrome with a similar phenotype. We note all these cases (including ours) have variants located in the -inter SH2 domain (iSH2); we speculate that pathogenic iSH2 located PIK3R1 …
On review of the literature, we have identified further cases of PIK3R1-related SHORT Syndrome with a similar phenotype. We no …
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders.
Hennekam RCM. Hennekam RCM. Eur J Med Genet. 2020 Nov;63(11):104028. doi: 10.1016/j.ejmg.2020.104028. Epub 2020 Aug 10. Eur J Med Genet. 2020. PMID: 32791128 Review.
A literature search using these characteristics yields 17 entities that fulfill this definition: Hutchinson-Gilford progeria, mandibulo-acral dysplasia, Nestor-Guillermo progeria, Werner syndrome, Cockayne syndrome, cutis laxa progeroid, Penttinen progeroid syndr …
A literature search using these characteristics yields 17 entities that fulfill this definition: Hutchinson-Gilford progeria, mandibulo-acra …
16 results