Our Research

Research and education are integral components of our program continuously pursued by our multidisciplinary team of healthcare professionals as part of our commitment to provide the most up-to-date and innovative treatments available to patients and to improve the future of skeletal dysplasia care.  Below are our recent publications:

Rico-Llanos G, Spoutil F, Blahova E, Koudelka A, Prochazkova M, Czyrek A, Fafilek B, Prochazka J, Lopez MG, Krivanek J, Sedlacek R, Krakow D, Nonaka Y, Nakamura Y, Krejci P.
Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy.(Link is external) (Link opens in new window)
J Bone Miner Res. 2024 Oct 18:zjae173. doi: 10.1093/jbmr/zjae173. Online ahead of print.
PMID: 39423254

Kot A, Chun C, Martin JH, Wachtell D, Hudson D, Weis M, Marks H, Srivastava S, Eyre DR, Duran I, Zieba J, Krakow D.
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.(Link is external) (Link opens in new window)
J Bone Miner Res. 2024 Sep 2;39(9):1240-1252. doi: 10.1093/jbmr/zjae124.
PMID: 39088537

MacCarrick G, Aradhya S, Bailey M, Chu D, Hunt A, Izzo E, Krakow D, Mackenzie W, Poll S, Raggio C, Shediac R, White KK, McLaughlin HM, Seratti G.
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.(Link is external) (Link opens in new window)
Am J Med Genet A. 2024 Sep;194(9):e63646. doi: 10.1002/ajmg.a.63646. Epub 2024 May 3.
PMID: 38702915

Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.(Link is external) (Link opens in new window)
PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. eCollection 2023 Nov.
PMID: 37934770 

Zieba J, Nevarez L, Wachtell D, Martin JH, Kot A, Wong S, Cohn DH, Krakow D.
Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth.(Link is external) (Link opens in new window)
JCI Insight. 2023 Nov 8;8(21):e171984. doi: 10.1172/jci.insight.171984.
PMID: 37796615 

Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R,
Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A.
Nosology of genetic skeletal disorders: 2023 revision.(Link is external) (Link opens in new window)
Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13.
PMID:36779427

Csukasi F, Bosakova M, Barta T, Martin JH, Arcedo J, Barad M, Rico-Llanos GA, Zieba J, Becerra J, Krejci P, Duran I, Krakow D.
Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR.(Link is external) (Link opens in new window)
Front Cell Dev Biol. 2023 Jan 16;10:963389. Doi: 10.3389/fcell.2022.963389. eCollection 2022.
PMID:36726589

Zieba J, Forlenza KN, Heard K, Martin JH, Bosakova M, Cohn DH, Robertson SP, Krejci P, Krakow D.
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model.(Link is external) (Link opens in new window)
Bone Res. 2022 Apr 26;10(1):37. doi: 10.1038/s41413-022-00200-5.
PMID:35474298

Duran I, Zieba J, Csukasi F, Martin JH, Wachtell D, Barad M, Dawson B, Fafilek B, Jacobsen CM, Ambrose CG, Cohn DH, Krejci P, Lee BH, Krakow D.
4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta.(Link is external) (Link opens in new window)
J Bone Miner Res. 2022 Apr;37(4):675-686. doi: 10.1002/jbmr.4501. Epub 2022 Jan 28.
PMID:34997935

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.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.(Link is external) (Link opens in new window)
Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14.
PMID:34519438

Lim J, Lietman C, Grol MW, Castellon A, Dawson B, Adeyeye M, Rai J, Weis M, Keene DR, Schweitzer R, Park D, Eyre DR, Krakow D, Lee BH.
Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta.(Link is external) (Link opens in new window)
Proc Natl Acad Sci U S A. 2021 Jun 22;118(25):e2100690118. doi: 10.1073/pnas.2100690118.
PMID:34161280

Kimura T, Bosakova M, Nonaka Y, Hruba E, Yasuda K, Futakawa S, Kubota T, Fafilek B, Gregor T, Abraham SP, Gomolkova R, Belaskova S, Pesl M, Csukasi F, Duran I, Fujiwara M, Kavkova M, Zikmund T, Kaiser J, Buchtova M, Krakow D, Nakamura Y, Ozono K, Krejci P.
An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.(Link is external) (Link opens in new window)
Sci Transl Med. 2021 May 5;13(592):eaba4226. doi: 10.1126/scitranslmed.aba4226.
PMID:33952673

Langston SJ, Krakow D, Chu A.
Revisiting Skeletal Dysplasias in the Newborn.(Link is external) (Link opens in new window)
Neoreviews. 2021 Apr;22(4):e216-e229. doi: 10.1542/neo.22-4-e216.
PMID:33795397 Review.

Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D.
Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes.(Link is external) (Link opens in new window)
Am J Obstet Gynecol MFM. 2021 Jul;3(4):100362. doi: 10.1016/j.ajogmf.2021.100362. Epub 2021 Mar 26.
PMID:33781976

Barad M, CsukasiF, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I.
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.(Link is external) (Link opens in new window)
EBioMedicine. 2020 Dec;62:103075. doi: 10.1016/j.ebiom.2020.103075. Epub 2020 Nov 23.
PMID:33242826

Bosakova M, Abraham SP, Nita A, Hruba E, Buchtova M, Taylor SP, Duran I, Martin J, Svozilova K, Barta T, Varecha M, Balek L, Kohoutek J, Radaszkiewicz T, Pusapati GV, Bryja V, Rush ET, Thiffault I, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Rohatgi R, Cohn DH, Krakow D, Krejci P.
Mutations in GRK2 cause Je(Link is external) (Link opens in new window)
EMBO Mol Med. 2020 Nov 6;12(11):e11739. doi: 10.15252/emmm.201911739. Epub 2020 Oct 14.
PMID:33200460

Kashanian A, Chan J, Mukherjee D, Pressman BD, Krakow D, Danielpour M.
Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.(Link is external) (Link opens in new window)
Am J Med Genet A. 2020 Aug;182(8):1896-1905. doi: 10.1002/ajmg.a.61640. Epub 2020 Jun 11.
PMID:32525257

Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH.
Dominant-negative SOX9 mutations in campomelic dysplasia.(Link is external) (Link opens in new window)
Hum Mutat. 2019 Dec;40(12):2344-2352. doi: 10.1002/humu.23888. Epub 2019 Aug 26.
PMID:31389106

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.(Link is external) (Link opens in new window)
Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.
PMID:30773277

Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium.
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.(Link is external) (Link opens in new window)
Eur J Med Genet. 2019 Dec;62(12):103606. doi: 10.1016/j.ejmg.2018.12.011. Epub 2018 Dec 26.
PMID:30593885

Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D.
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.(Link is external) (Link opens in new window)
Sci Transl Med. 2018 Sep 19;10(459):eaat9356. doi: 10.1126/scitranslmed.aat9356.
PMID:30232230

You can find more publications here. http://3w1d.suzhuan-sh.com/providers/deborah-krakow#research