217 related articles for article (PubMed ID: 34762822)
1. Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Sevim Bayrak C; Stein D; Jain A; Chaudhary K; Nadkarni GN; Van Vleck TT; Puel A; Boisson-Dupuis S; Okada S; Stenson PD; Cooper DN; Schlessinger A; Itan Y
Am J Hum Genet; 2021 Dec; 108(12):2301-2318. PubMed ID: 34762822
[TBL] [Abstract][Full Text] [Related]
2. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D; Kars ME; Wu Y; Bayrak ÇS; Stenson PD; Cooper DN; Schlessinger A; Itan Y
Genome Med; 2023 Nov; 15(1):103. PubMed ID: 38037155
[TBL] [Abstract][Full Text] [Related]
3. Identification of genomic features in the classification of loss- and gain-of-function mutation.
Jung S; Lee S; Kim S; Nam H
BMC Med Inform Decis Mak; 2015; 15 Suppl 1(Suppl 1):S6. PubMed ID: 26043747
[TBL] [Abstract][Full Text] [Related]
4. Distinguishing Loss-of-Function and Gain-of-Function
Hack JB; Horning K; Juroske Short DM; Schreiber JM; Watkins JC; Hammer MF
Neurol Genet; 2023 Jun; 9(3):e200060. PubMed ID: 37152443
[TBL] [Abstract][Full Text] [Related]
5. Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W; Chen X; Gao G; Xing S; Zhou L; Tang X; Zhao X; An Y
Front Immunol; 2021; 12():654406. PubMed ID: 33777053
[No Abstract] [Full Text] [Related]
6. VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants.
Ge F; Li C; Iqbal S; Muhammad A; Li F; Thafar MA; Yan Z; Worachartcheewan A; Xu X; Song J; Yu DJ
Brief Bioinform; 2023 Jan; 24(1):. PubMed ID: 36528806
[TBL] [Abstract][Full Text] [Related]
7. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R; Fujiki R; Tsumura M; Sakata S; Nishimura S; Itan Y; Kong XF; Kato Z; Ohnishi H; Hirata O; Saito S; Ikeda M; El Baghdadi J; Bousfiha A; Fujiwara K; Oleastro M; Yancoski J; Perez L; Danielian S; Ailal F; Takada H; Hara T; Puel A; Boisson-Dupuis S; Bustamante J; Casanova JL; Ohara O; Okada S; Kobayashi M
J Allergy Clin Immunol; 2017 Jul; 140(1):232-241. PubMed ID: 28011069
[TBL] [Abstract][Full Text] [Related]
8. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Coban-Akdemir Z; White JJ; Song X; Jhangiani SN; Fatih JM; Gambin T; Bayram Y; Chinn IK; Karaca E; Punetha J; Poli C; ; Boerwinkle E; Shaw CA; Orange JS; Gibbs RA; Lappalainen T; Lupski JR; Carvalho CMB
Am J Hum Genet; 2018 Aug; 103(2):171-187. PubMed ID: 30032986
[TBL] [Abstract][Full Text] [Related]
9. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne HO; Baez-Nieto D; Iqbal S; Palmer DS; Brunklaus A; May P; ; Johannesen KM; Lauxmann S; Lemke JR; Møller RS; Pérez-Palma E; Scholl UI; Syrbe S; Lerche H; Lal D; Campbell AJ; Wang HR; Pan J; Daly MJ
Sci Transl Med; 2020 Aug; 12(556):. PubMed ID: 32801145
[TBL] [Abstract][Full Text] [Related]
10. When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Pagel KA; Pejaver V; Lin GN; Nam HJ; Mort M; Cooper DN; Sebat J; Iakoucheva LM; Mooney SD; Radivojac P
Bioinformatics; 2017 Jul; 33(14):i389-i398. PubMed ID: 28882004
[TBL] [Abstract][Full Text] [Related]
11. Unraveling the Immunogenetics of STAT Proteins: Clinical Perspectives on Gain-of-Function and Loss-of-Function Variants.
Meesilpavikkai K; Hirankarn N; Dalm VASH; Hagen PMV; Dik WA; IJspeert H
Asian Pac J Allergy Immunol; 2024 Jun; 42(2):105-122. PubMed ID: 38710647
[TBL] [Abstract][Full Text] [Related]
12. A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.
Uribe KB; Chemello K; Larrea-Sebal A; Benito-Vicente A; Galicia-Garcia U; Bourane S; Jaafar AK; Lambert G; Martín C
Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948399
[TBL] [Abstract][Full Text] [Related]
13. Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure.
Gerasimavicius L; Livesey BJ; Marsh JA
Nat Commun; 2022 Jul; 13(1):3895. PubMed ID: 35794153
[TBL] [Abstract][Full Text] [Related]
14. Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li N; Rowley SM; Thompson ER; McInerny S; Devereux L; Amarasinghe KC; Zethoven M; Lupat R; Goode D; Li J; Trainer AH; Gorringe KL; James PA; Campbell IG
Breast Cancer Res; 2018 Jan; 20(1):3. PubMed ID: 29316957
[TBL] [Abstract][Full Text] [Related]
15. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L; Li X; Moutton S; Schrier Vergano SA; Cogné B; Saint-Martin A; Hurst ACE; Hu Y; Bodamer O; Thevenon J; Hung CY; Isidor B; Gerard B; Rega A; Nambot S; Lehalle D; Duffourd Y; Thauvin-Robinet C; Faivre L; Bézieau S; Dure LS; Helbling DC; Bick D; Xu C; Chen Q; Mancini GMS; Vitobello A; Wang QK
Hum Mol Genet; 2019 Sep; 28(17):2937-2951. PubMed ID: 31152168
[TBL] [Abstract][Full Text] [Related]
16. Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K; Sakura F; Nambu R; Tsumura M; Imanaka Y; Ohnishi H; Kato Z; Pan J; Hoshino A; Suzuki K; Yasutomi M; Umetsu S; Okada C; Takagi M; Imai K; Ohara O; Muise AM; Okada S; Morio T; Kanegane H
J Clin Immunol; 2021 May; 41(4):780-790. PubMed ID: 33501615
[TBL] [Abstract][Full Text] [Related]
17. Loss-of-function tolerance of enhancers in the human genome.
Xu D; Gokcumen O; Khurana E
PLoS Genet; 2020 Apr; 16(4):e1008663. PubMed ID: 32243438
[TBL] [Abstract][Full Text] [Related]
18. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Weber-Lassalle N; Borde J; Weber-Lassalle K; Horváth J; Niederacher D; Arnold N; Kaulfuß S; Ernst C; Paul VG; Honisch E; Klaschik K; Volk AE; Kubisch C; Rapp S; Lichey N; Altmüller J; Lepkes L; Pohl-Rescigno E; Thiele H; Nürnberg P; Larsen M; Richters L; Rhiem K; Wappenschmidt B; Engel C; Meindl A; Schmutzler RK; Hahnen E; Hauke J
Breast Cancer Res; 2019 Apr; 21(1):55. PubMed ID: 31036035
[TBL] [Abstract][Full Text] [Related]
19. Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB; Watkins JC; Hammer MF
Biol Open; 2024 Apr; 13(4):. PubMed ID: 38466077
[TBL] [Abstract][Full Text] [Related]
20. Gain-of-function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta-analysis.
Qasim A; Mayhew AJ; Ehtesham S; Alyass A; Volckmar AL; Herpertz S; Hinney A; Hebebrand J; Meyre D
Obes Rev; 2019 Jan; 20(1):13-21. PubMed ID: 30306707
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
