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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: kresge c. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: kresge c. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, Al Alam C, Alesi V, Benoit V, Bhatia KP, Bierhals T, Boßelmann CM, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Geßner M, Gobert C, Guliyeva U, Haack TB, Hammer TB, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi MY, Moudi M, Müller AJ, Oostra AJ, Pletcher BA, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki MS, Zech M, Lerche H, Radio FC, Gomez-Puertas P, Møller RS, Tümer Z. Christensen MB, et al. Among authors: kresge c. Clin Genet. 2022 Aug;102(2):98-109. doi: 10.1111/cge.14165. Epub 2022 Jun 8. Clin Genet. 2022. PMID: 35616059 Free PMC article.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Smits DJ, Schot R, Krusy N, Wiegmann K, Utermöhlen O, Mulder MT, den Hoedt S, Yoon G, Deshwar AR, Kresge C, Pletcher B, van Mook M, Ferreira MS, Poot RA, Slotman JA, Kremers GJ, Ahmad A, Albash B, Bastaki L, Marafi D, Dekker J, van Ham TJ, Nguyen L, Mancini GMS. Smits DJ, et al. Among authors: kresge c. Brain. 2023 Aug 1;146(8):3528-3541. doi: 10.1093/brain/awad033. Brain. 2023. PMID: 36732302 Free PMC article.
Signaling through the interleukin-4 and interleukin-13 receptor complexes regulates cholangiocyte TMEM16A expression and biliary secretion.
Dutta AK, Boggs K, Khimji AK, Getachew Y, Wang Y, Kresge C, Rockey DC, Feranchak AP. Dutta AK, et al. Among authors: kresge c. Am J Physiol Gastrointest Liver Physiol. 2020 Apr 1;318(4):G763-G771. doi: 10.1152/ajpgi.00219.2019. Epub 2020 Feb 24. Am J Physiol Gastrointest Liver Physiol. 2020. PMID: 32090602 Free PMC article.
34 results