FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2885238934> ?p ?o ?g. }

• W2885238934 endingPage "495.e5" @default.
• W2885238934 startingPage "486" @default.
• W2885238934 abstract "ObjectiveTo investigate the mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism (IHH) and discover new pathogenic genes that cause IHH.DesignA gene panel, including 31 known IHH genes and 52 candidate genes, was used to perform semiconductor next-generation sequencing.SettingUniversity hospital.PatientsOne hundred thirty-eight sporadic male IHH patients and 10 IHH families; 100 healthy men with normal fertility served as control subjects.Interventions(s)None.Main Outcome Measure(s)Targeted next-generation sequencing, polymerase chain reaction and sequencing, pedigree analysis, and bioinformatics analysis.Result(s)Variants were distributed uniformly throughout 52 genes (52/83, 62.65%), including 16 (16/31, 51.61%) causal genes and 36 (36/52, 69.23%) candidate genes. Six new pathogenic variants and 52 likely pathogenic variants were identified in 16 genes known to cause nIHH/KS (normosmic IHH/Kallmann syndrome). In the 148 probands, PROKR2 (22/148, 14.86%), CHD7, FGFR1, and KAL1 had high mutation rates, and 8.78% (13/148) of the patients carried at least two variants in known genes. In addition, variants were identified in 36 candidate genes, and EGFR, ERBB4, PAX6, IGF1, SEMA4D, and SEMA7A should be prioritized for further research and genetic testing in IHH.Conclusion(s)The mutation frequency of IHH-causal genes in Chinese HAN males was different from the data reported in white populations. Oligogenic inheritance was a common phenomenon in IHH. Our study expands the mutation profile for IHH, and the new likely pathogenic genes identified in our study warrant further research in GnRH neuronal networks. To investigate the mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism (IHH) and discover new pathogenic genes that cause IHH. A gene panel, including 31 known IHH genes and 52 candidate genes, was used to perform semiconductor next-generation sequencing. University hospital. One hundred thirty-eight sporadic male IHH patients and 10 IHH families; 100 healthy men with normal fertility served as control subjects. None. Targeted next-generation sequencing, polymerase chain reaction and sequencing, pedigree analysis, and bioinformatics analysis. Variants were distributed uniformly throughout 52 genes (52/83, 62.65%), including 16 (16/31, 51.61%) causal genes and 36 (36/52, 69.23%) candidate genes. Six new pathogenic variants and 52 likely pathogenic variants were identified in 16 genes known to cause nIHH/KS (normosmic IHH/Kallmann syndrome). In the 148 probands, PROKR2 (22/148, 14.86%), CHD7, FGFR1, and KAL1 had high mutation rates, and 8.78% (13/148) of the patients carried at least two variants in known genes. In addition, variants were identified in 36 candidate genes, and EGFR, ERBB4, PAX6, IGF1, SEMA4D, and SEMA7A should be prioritized for further research and genetic testing in IHH. The mutation frequency of IHH-causal genes in Chinese HAN males was different from the data reported in white populations. Oligogenic inheritance was a common phenomenon in IHH. Our study expands the mutation profile for IHH, and the new likely pathogenic genes identified in our study warrant further research in GnRH neuronal networks." @default.
• W2885238934 created "2018-08-22" @default.
• W2885238934 creator A5002201482 @default.
• W2885238934 creator A5014137444 @default.
• W2885238934 creator A5026746035 @default.
• W2885238934 creator A5027277680 @default.
• W2885238934 creator A5027441287 @default.
• W2885238934 creator A5065238326 @default.
• W2885238934 creator A5082402921 @default.
• W2885238934 creator A5085142676 @default.
• W2885238934 creator A5085572806 @default.
• W2885238934 date "2018-08-01" @default.
• W2885238934 modified "2023-10-17" @default.
• W2885238934 title "Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism" @default.
• W2885238934 cites W1487045267 @default.
• W2885238934 cites W1530577788 @default.
• W2885238934 cites W1530962485 @default.
• W2885238934 cites W1600964092 @default.
• W2885238934 cites W1803102843 @default.
• W2885238934 cites W1885982235 @default.
• W2885238934 cites W1937139724 @default.
• W2885238934 cites W1975612258 @default.
• W2885238934 cites W1977150972 @default.
• W2885238934 cites W1980291961 @default.
• W2885238934 cites W1982199134 @default.
• W2885238934 cites W1983101401 @default.
• W2885238934 cites W1985669507 @default.
• W2885238934 cites W1997472193 @default.
• W2885238934 cites W1999322137 @default.
• W2885238934 cites W2003282533 @default.
• W2885238934 cites W2006433593 @default.
• W2885238934 cites W2008386530 @default.
• W2885238934 cites W2015642465 @default.
• W2885238934 cites W2016236173 @default.
• W2885238934 cites W2024155454 @default.
• W2885238934 cites W2025161059 @default.
• W2885238934 cites W2028046751 @default.
• W2885238934 cites W2028933917 @default.
• W2885238934 cites W2028962442 @default.
• W2885238934 cites W2032218533 @default.
• W2885238934 cites W2050025620 @default.
• W2885238934 cites W2051978340 @default.
• W2885238934 cites W2056553065 @default.
• W2885238934 cites W2067244055 @default.
• W2885238934 cites W2067265604 @default.
• W2885238934 cites W2076970355 @default.
• W2885238934 cites W2078804630 @default.
• W2885238934 cites W2079455457 @default.
• W2885238934 cites W2082995904 @default.
• W2885238934 cites W2086525344 @default.
• W2885238934 cites W2087936498 @default.
• W2885238934 cites W2092712137 @default.
• W2885238934 cites W2097950033 @default.
• W2885238934 cites W2108392516 @default.
• W2885238934 cites W2112897062 @default.
• W2885238934 cites W2114506814 @default.
• W2885238934 cites W2122897688 @default.
• W2885238934 cites W2135723469 @default.
• W2885238934 cites W2151255434 @default.
• W2885238934 cites W2166092178 @default.
• W2885238934 cites W2169567789 @default.
• W2885238934 cites W2178429948 @default.
• W2885238934 cites W2308747718 @default.
• W2885238934 cites W2315019522 @default.
• W2885238934 cites W2403970563 @default.
• W2885238934 cites W2756477150 @default.
• W2885238934 cites W2769488701 @default.
• W2885238934 cites W2770728886 @default.
• W2885238934 doi "https://doi.org/10.1016/j.fertnstert.2018.04.010" @default.
• W2885238934 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30098700" @default.
• W2885238934 hasPublicationYear "2018" @default.
• W2885238934 type Work @default.
• W2885238934 sameAs 2885238934 @default.
• W2885238934 citedByCount "33" @default.
• W2885238934 countsByYear W28852389342019 @default.
• W2885238934 countsByYear W28852389342020 @default.
• W2885238934 countsByYear W28852389342021 @default.
• W2885238934 countsByYear W28852389342022 @default.
• W2885238934 countsByYear W28852389342023 @default.
• W2885238934 crossrefType "journal-article" @default.
• W2885238934 hasAuthorship W2885238934A5002201482 @default.
• W2885238934 hasAuthorship W2885238934A5014137444 @default.
• W2885238934 hasAuthorship W2885238934A5026746035 @default.
• W2885238934 hasAuthorship W2885238934A5027277680 @default.
• W2885238934 hasAuthorship W2885238934A5027441287 @default.
• W2885238934 hasAuthorship W2885238934A5065238326 @default.
• W2885238934 hasAuthorship W2885238934A5082402921 @default.
• W2885238934 hasAuthorship W2885238934A5085142676 @default.
• W2885238934 hasAuthorship W2885238934A5085572806 @default.
• W2885238934 hasBestOaLocation W28852389341 @default.
• W2885238934 hasConcept C104317684 @default.
• W2885238934 hasConcept C126322002 @default.
• W2885238934 hasConcept C134018914 @default.
• W2885238934 hasConcept C188997412 @default.
• W2885238934 hasConcept C2777239080 @default.
• W2885238934 hasConcept C2779134260 @default.
• W2885238934 hasConcept C2781255401 @default.
• W2885238934 hasConcept C3008058167 @default.

• next