130 related articles for article (PubMed ID: 38618962)
1. A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.
Korff A; Yang X; O'Donovan K; Gonzalez A; Teubner BJ; Nakamura H; Messing J; Yang F; Carisey AF; Wang YD; Patni T; Sheppard H; Zakharenko SS; Chook YM; Taylor JP; Kim HJ
J Clin Invest; 2024 Apr; 134(8):. PubMed ID: 38618962
[No Abstract] [Full Text] [Related]
2. A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.
Korff A; Yang X; O'Donovan K; Gonzalez A; Teubner BJ; Nakamura H; Messing J; Yang F; Carisey AF; Wang YD; Patni T; Sheppard H; Zakharenko SS; Chook YM; Taylor JP; Kim HJ
J Clin Invest; 2023 Jul; 133(14):. PubMed ID: 37463454
[TBL] [Abstract][Full Text] [Related]
3. A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disorders.
Gonzalez A; Kim HJ; Freibaum BD; Joyce Fung HY; Brautigam CA; Taylor JP; Chook YM
bioRxiv; 2023 Jan; ():. PubMed ID: 36711837
[TBL] [Abstract][Full Text] [Related]
4. Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Pilch J; Koppolu AA; Walczak A; Murcia Pienkowski VA; Biernacka A; Skiba P; Machnik-Broncel J; Gasperowicz P; Kosińska J; Rydzanicz M; Emich-Widera E; Płoski R
Clin Genet; 2018 Oct; 94(3-4):381-385. PubMed ID: 29938792
[TBL] [Abstract][Full Text] [Related]
5. A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders.
Gonzalez A; Kim HJ; Freibaum BD; Fung HYJ; Brautigam CA; Taylor JP; Chook YM
Structure; 2023 Aug; 31(8):924-934.e4. PubMed ID: 37279758
[TBL] [Abstract][Full Text] [Related]
6. Rett-like Phenotypes in
Gonzalez JN; Goldman S; Carter MT; Bain JM
Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372334
[TBL] [Abstract][Full Text] [Related]
7. HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC; Li R; A Turner S; van Jaarsveld RH; Massink MPG; van den Boogaard MH; Del Toro M; Rodríguez-Palmero A; Fourcade S; Schlüter A; Planas-Serra L; Pujol A; Iascone M; Maitz S; Loong L; Stewart H; De Franco E; Ellard S; Frank J; Lewandowski R
Clin Genet; 2020 Jul; 98(1):91-98. PubMed ID: 32335897
[TBL] [Abstract][Full Text] [Related]
8. hnRNPH2 gain-of-function mutations reveal therapeutic strategies and a role for RNA granules in neurodevelopmental disorders.
Kelvington BA; Abel T
J Clin Invest; 2023 Jul; 133(14):. PubMed ID: 37463443
[TBL] [Abstract][Full Text] [Related]
9. Detailed Clinical and Psychological Phenotype of the X-linked
Bain JM; Thornburg O; Pan C; Rome-Martin D; Boyle L; Fan X; Devinsky O; Frye R; Hamp S; Keator CG; LaMarca NM; Maddocks ABR; Madruga-Garrido M; Niederhoffer KY; Novara F; Peron A; Poole-Di Salvo E; Salazar R; Skinner SA; Soares G; Goldman S; Chung WK
Neurol Genet; 2021 Feb; 7(1):e551. PubMed ID: 33728377
[TBL] [Abstract][Full Text] [Related]
10. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Kreienkamp HJ; Wagner M; Weigand H; McConkie-Rossell A; McDonald M; Keren B; Mignot C; Gauthier J; Soucy JF; Michaud JL; Dumas M; Smith R; Löbel U; Hempel M; Kubisch C; Denecke J; Campeau PM; Bain JM; Lessel D
Hum Genet; 2022 Feb; 141(2):257-272. PubMed ID: 34907471
[TBL] [Abstract][Full Text] [Related]
11. Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
Peron A; Novara F; La Briola F; Merati E; Giannusa E; Segalini E; Anniballi G; Vignoli A; Ciccone R; Canevini MP
Am J Med Genet A; 2020 Apr; 182(4):823-828. PubMed ID: 31943778
[TBL] [Abstract][Full Text] [Related]
12. Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
Salazar R; Beenders S; LaMarca NM; Thornburg O; Rubin-Thompson L; Snow A; Goldman S; Chung WK; Bain JM
Res Dev Disabil; 2021 Dec; 119():104110. PubMed ID: 34794115
[TBL] [Abstract][Full Text] [Related]
13. Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation.
Ma X; Zhu L; Chen W; Sheng M; Peng F; Liang M; Zhao Y; Wang Y; Feng Z
Stem Cell Res; 2021 Dec; 57():102571. PubMed ID: 34763229
[TBL] [Abstract][Full Text] [Related]
14. Unexplored regulatory sequences of divergently paired
Al-Obaide MAI; Al-Obaidi II; Vasylyeva TL
Exp Ther Med; 2021 Feb; 21(2):154. PubMed ID: 33456521
[TBL] [Abstract][Full Text] [Related]
15. Sex-dependent effects of an Hnrnph1 mutation on fentanyl addiction-relevant behaviors but not antinociception in mice.
Bryant CD; Healy AF; Ruan QT; Coehlo MA; Lustig E; Yazdani N; Luttik KP; Tran T; Swancy I; Brewin LW; Chen MM; Szumlinski KK
Genes Brain Behav; 2021 Mar; 20(3):e12711. PubMed ID: 33145940
[TBL] [Abstract][Full Text] [Related]
16. Novel enhancer mediates the
Al-Obaide MA; Islam S; Al-Obaidi I; Vasylyeva TL
Front Genet; 2023; 14():1229088. PubMed ID: 38155709
[TBL] [Abstract][Full Text] [Related]
17. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
[TBL] [Abstract][Full Text] [Related]
18. 5' UTR variants in the quantitative trait gene Hnrnph1 support reduced 5' UTR usage and hnRNP H protein as a molecular mechanism underlying reduced methamphetamine sensitivity.
Ruan QT; Yazdani N; Reed ER; Beierle JA; Peterson LP; Luttik KP; Szumlinski KK; Johnson WE; Ash PEA; Wolozin B; Bryant CD
FASEB J; 2020 Jul; 34(7):9223-9244. PubMed ID: 32401417
[TBL] [Abstract][Full Text] [Related]
19. The potential consequences of bidirectional promoter methylation on
Al-Obaide MA; Al-Obaidi II; Vasylyeva TL
Biomed Rep; 2022 Aug; 17(2):71. PubMed ID: 35910704
[TBL] [Abstract][Full Text] [Related]
20. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM; Cho MT; Telegrafi A; Wilson A; Brooks S; Botti C; Gowans G; Autullo LA; Krishnamurthy V; Willing MC; Toler TL; Ben-Zev B; Elpeleg O; Shen Y; Retterer K; Monaghan KG; Chung WK
Am J Hum Genet; 2016 Sep; 99(3):728-734. PubMed ID: 27545675
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
