Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283760273> ?p ?o ?g. }
- W4283760273 endingPage "2088" @default.
- W4283760273 startingPage "2088" @default.
- W4283760273 abstract "Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause genetic forms of CPHD. However, the etiology of around 85% of the cases remains unknown. The aim of this study was to unveil the genetic etiology of CPHD due to congenital hypopituitarism employing whole exome sequencing (WES) in two newborn patients, initially tested and found to be negative for PROP1, LHX3, LHX4 and HESX1 pathogenic variants by Sanger sequencing and for copy number variations by MLPA. In this study, the application of WES in these CPHD newborns revealed the presence of three different heterozygous gene variants in each patient. Specifically in patient 1, the variants BMP4; p.Ala42Pro, GNRH1; p.Arg73Ter and SRA1; p.Gln32Glu, and in patient 2, the SOX9; p.Val95Ile, HS6ST1; p.Arg306Gln, and IL17RD; p.Pro566Ser were identified as candidate gene variants. These findings further support the hypothesis that CPHD constitutes an oligogenic rather than a monogenic disease and that there is a genetic overlap between CPHD and congenital hypogonadotropic hypogonadism." @default.
- W4283760273 created "2022-07-02" @default.
- W4283760273 creator A5002370072 @default.
- W4283760273 creator A5006461741 @default.
- W4283760273 creator A5018176645 @default.
- W4283760273 creator A5031862799 @default.
- W4283760273 creator A5043598066 @default.
- W4283760273 creator A5060811024 @default.
- W4283760273 creator A5065441382 @default.
- W4283760273 creator A5088344019 @default.
- W4283760273 date "2022-06-30" @default.
- W4283760273 modified "2023-09-24" @default.
- W4283760273 title "Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency" @default.
- W4283760273 cites W1967768414 @default.
- W4283760273 cites W1972947922 @default.
- W4283760273 cites W1973295687 @default.
- W4283760273 cites W1985545307 @default.
- W4283760273 cites W1986469118 @default.
- W4283760273 cites W1986960611 @default.
- W4283760273 cites W1990087290 @default.
- W4283760273 cites W1994279935 @default.
- W4283760273 cites W2006433593 @default.
- W4283760273 cites W2011796667 @default.
- W4283760273 cites W2019902457 @default.
- W4283760273 cites W2021900499 @default.
- W4283760273 cites W2024791049 @default.
- W4283760273 cites W2033527225 @default.
- W4283760273 cites W2039404256 @default.
- W4283760273 cites W2041768758 @default.
- W4283760273 cites W2048349027 @default.
- W4283760273 cites W2049424035 @default.
- W4283760273 cites W2050401236 @default.
- W4283760273 cites W2056840798 @default.
- W4283760273 cites W2058482858 @default.
- W4283760273 cites W2074296490 @default.
- W4283760273 cites W2085080382 @default.
- W4283760273 cites W2088850924 @default.
- W4283760273 cites W2094818113 @default.
- W4283760273 cites W2095629763 @default.
- W4283760273 cites W2098762562 @default.
- W4283760273 cites W2104834795 @default.
- W4283760273 cites W2113955875 @default.
- W4283760273 cites W2118867779 @default.
- W4283760273 cites W2122809686 @default.
- W4283760273 cites W2123465185 @default.
- W4283760273 cites W2152149172 @default.
- W4283760273 cites W2178429948 @default.
- W4283760273 cites W2184453560 @default.
- W4283760273 cites W2328465796 @default.
- W4283760273 cites W2337761961 @default.
- W4283760273 cites W2339871729 @default.
- W4283760273 cites W2410355736 @default.
- W4283760273 cites W2415213726 @default.
- W4283760273 cites W2556688220 @default.
- W4283760273 cites W2579106368 @default.
- W4283760273 cites W2608062236 @default.
- W4283760273 cites W2756513945 @default.
- W4283760273 cites W2765416676 @default.
- W4283760273 cites W2768296077 @default.
- W4283760273 cites W2808084781 @default.
- W4283760273 cites W2903799668 @default.
- W4283760273 cites W2925536836 @default.
- W4283760273 cites W2945626992 @default.
- W4283760273 cites W2945732818 @default.
- W4283760273 cites W2951823883 @default.
- W4283760273 cites W2973215277 @default.
- W4283760273 cites W2981061219 @default.
- W4283760273 cites W2984423247 @default.
- W4283760273 cites W3010361461 @default.
- W4283760273 cites W3012871603 @default.
- W4283760273 cites W3035984191 @default.
- W4283760273 cites W3038226804 @default.
- W4283760273 cites W3081495369 @default.
- W4283760273 cites W3082182570 @default.
- W4283760273 cites W3082605958 @default.
- W4283760273 cites W3109740794 @default.
- W4283760273 cites W3116908467 @default.
- W4283760273 cites W3139932997 @default.
- W4283760273 cites W3170291658 @default.
- W4283760273 cites W3192798648 @default.
- W4283760273 doi "https://doi.org/10.3390/cells11132088" @default.
- W4283760273 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35805171" @default.
- W4283760273 hasPublicationYear "2022" @default.
- W4283760273 type Work @default.
- W4283760273 citedByCount "3" @default.
- W4283760273 countsByYear W42837602732022 @default.
- W4283760273 countsByYear W42837602732023 @default.
- W4283760273 crossrefType "journal-article" @default.
- W4283760273 hasAuthorship W4283760273A5002370072 @default.
- W4283760273 hasAuthorship W4283760273A5006461741 @default.
- W4283760273 hasAuthorship W4283760273A5018176645 @default.
- W4283760273 hasAuthorship W4283760273A5031862799 @default.
- W4283760273 hasAuthorship W4283760273A5043598066 @default.
- W4283760273 hasAuthorship W4283760273A5060811024 @default.
- W4283760273 hasAuthorship W4283760273A5065441382 @default.
- W4283760273 hasAuthorship W4283760273A5088344019 @default.
- W4283760273 hasBestOaLocation W42837602731 @default.
- W4283760273 hasConcept C104317684 @default.