https://transhumanist.ru/index.php?action=history&feed=atom&title=SPRED1SPRED1 - История изменений2026-08-11T22:23:50ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=SPRED1&diff=5089&oldid=prevOdysseusBot: Новая страница: «Sprouty-related, EVH1 domain-containing protein 1 (Spred-1) (hSpred1) ==Publications== {{medline-entry |title=SPRED 1 mutations in a neurofibromatosis clinic. |...»2021-05-12T13:28:46Z<p>Новая страница: «Sprouty-related, EVH1 domain-containing protein 1 (Spred-1) (hSpred1) ==Publications== {{medline-entry |title=SPRED 1 mutations in a neurofibromatosis clinic. |...»</p>
<p><b>Новая страница</b></p><div>Sprouty-related, EVH1 domain-containing protein 1 (Spred-1) (hSpred1)<br />
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==Publications==<br />
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{{medline-entry<br />
|title=SPRED 1 mutations in a neurofibromatosis clinic.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/20179001<br />
|abstract=Legius syndrome, caused by [[SPRED1]] mutations, has phenotypic overlap with neurofibromatosis type 1 ([[NF1]]) without tumorigenic manifestations. Patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for [[NF1]] were enrolled at the University of Utah NF Clinic, and [[SPRED1]] mutation analysis was performed to identify the frequency of Legius syndrome within an [[NF1]] clinic population. [[SPRED1]] sequencing was performed on 151 individuals with the clinical diagnosis of [[NF1]], and 2 individuals (1.3%) were found to have novel [[SPRED1]] mutations, p.R18X and p.Q194X. The phenotypes for the 2 individuals with [[SPRED1]] mutations included altered pigmentation without tumorigenesis. A specific [[SPRED1]] haplotype allele was identified in 27 individuals. The frequency of [[SPRED1]] mutations in patients meeting diagnostic criteria for [[NF1]] in a hospital-based clinic is 1% to 2%. The likelihood an individual is harboring a [[SPRED1]] mutation increases with age if multiple, nonpigmentary [[NF1]] findings are absent. Legius syndrome patients may benefit from altered medical surveillance.<br />
|mesh-terms=* Adaptor Proteins, Signal Transducing<br />
* Adolescent<br />
* Adult<br />
* Aging<br />
* Cafe-au-Lait Spots<br />
* Child<br />
* Child, Preschool<br />
* Cohort Studies<br />
* Comorbidity<br />
* Female<br />
* Genetic Predisposition to Disease<br />
* Humans<br />
* Infant<br />
* Intracellular Signaling Peptides and Proteins<br />
* Male<br />
* Membrane Proteins<br />
* Mutation<br />
* Neurofibromatosis 1<br />
* Young Adult<br />
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|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243064<br />
}}</div>OdysseusBot