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Page 1
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan A, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch TC, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Among authors: faust h. Genet Med. 2024 Dec 27:101348. doi: 10.1016/j.gim.2024.101348. Online ahead of print. Genet Med. 2024. PMID: 39737487
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C. Schmid CM, et al. Among authors: faust h. Eur J Hum Genet. 2024 Dec 12. doi: 10.1038/s41431-024-01760-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39668183
Adipocyte associated glucocorticoid signaling regulates normal fibroblast function which is lost in inflammatory arthritis.
Faust HJ, Cheng TY, Korsunsky I, Watts GFM, Gal-Oz ST, Trim WV, Kongthong S, Jonsson AH, Simmons DP, Zhang F, Padera R, Chubinskaya S; Accelerating Medicines Partnership: RA/SLE Network; Wei K, Raychaudhuri S, Lynch L, Moody DB, Brenner MB. Faust HJ, et al. Nat Commun. 2024 Nov 14;15(1):9859. doi: 10.1038/s41467-024-52586-x. Nat Commun. 2024. PMID: 39543086 Free PMC article.
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.
Klötzer C, Schnabel F, Kubasch AS, Jentzsch M, Franke GN, Uhlig J, Faust H, Jauss RT, Oppermann H, Popp D, Metzeler KH, Lemke JR, Vučinić V, Platzbecker U. Klötzer C, et al. Among authors: faust h. Acta Haematol. 2024 Oct 28:1-5. doi: 10.1159/000542286. Online ahead of print. Acta Haematol. 2024. PMID: 39467528 Free article.
Endothelial cell sphingosine 1-phosphate receptor 1 restrains VE-cadherin cleavage and attenuates experimental inflammatory arthritis.
Burg N, Malpass R, Alex L, Tran M, Englebrecht E, Kuo A, Pannelini T, Minett M, Athukorala K, Worgall T, Faust HJ, Goodman S, Mehta B, Brenner M, Vestweber D, Wei K, Blobel C, Hla T, Salmon JE. Burg N, et al. Among authors: faust hj. JCI Insight. 2024 Jun 10;9(11):e171467. doi: 10.1172/jci.insight.171467. JCI Insight. 2024. PMID: 38855867 Free PMC article.
183 results