Thalidomide-induced limb malformations: an update and reevaluation

Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC (1996) Further delineation of the acro-renal-ocular syndrome. Am J Med Genet 62(3):276–281. https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H

Article  CAS  PubMed  Google Scholar 

Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, GaberKR (2016) Expanding the mutation and clinical spectrum of Roberts syndrome. Congenit Anom (Kyoto) 56(4):154–162.https://doi.org/10.1111/cga.12151

Article  CAS  PubMed  Google Scholar 

Agarwal RP, Jain D, Ramesh Babu CS, Garg RK (1996) A hereditable combination of congenital anomalies. J Bone Joint Surg Br 78(3):492–494

Article  CAS  PubMed  Google Scholar 

Aho ER, Wang J, Gogliotti RD, Howard GC, Phan J, Acharya P, Macdonald JD, Cheng K, Lorey SL, Lu B, Wenzel S, Foshage AM, Alvarado J, Wang F, Shaw JG, Zhao B, Weissmiller AM, Thomas LR, Vakoc CR, Hall MD, Hiebert SW, Liu Q, Stauffer SR, Fesik SW, Tansey WP (2019) Displacement of WDR5 from chromatin by a WIN site inhibitor with picomolar affinity. Cell Rep 26(11):2916–2928.e13. https://doi.org/10.1016/j.celrep.2019.02.047

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aintablian NH, Slim MS, Antoun BW (1987) Congenital microgastria. Pediatr Surg Int 2:307–310.https://doi.org/10.1007/BF00176206

Article  Google Scholar 

Akiyama R, Kawakami H, Wong J, Oishi I, Nishinakamura R, Kawakami Y (2015) Sall4-Gli3 system in early limb progenitors is essential for the development of limb skeletal elements. Proc Natl Acad Sci USA 112(16):5075–5080. https://doi.org/10.1073/pnas.1421949112

Article  CAS  PubMed  PubMed Central  Google Scholar 

Akuffo AA, Alontaga AY, Metcalf R, Beatty MS, Becker A, McDaniel JM, Hesterberg RS, Goodheart WE, Gunawan S, Ayaz M, Yang Y, Karim MR, Orobello ME, Daniel K, Guida W, Yoder JA, Rajadhyaksha AM, Schönbrunn E, Lawrence HR, Lawrence NJ, Epling-Burnette PK (2018) Ligand-mediated protein degradation reveals functional conservation among sequence variants of the CUL4-type E3 ligase substrate receptor cereblon. J Biol Chem 293(16):6187–6200. https://doi.org/10.1074/jbc.M117.816868

Article  CAS  PubMed  PubMed Central  Google Scholar 

Al Amin ASM, Carter KR (2022) Polydactyly. In: StatPearls [Internet]. Treasure Island (FL):StatPearls Publishing; 2022. https://www.ncbi.nlm.nih.gov/books/NBK430685/

Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 71:1195–1199. https://doi.org/10.1086/343821

Article  CAS  PubMed  PubMed Central  Google Scholar 

Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, KostadimaM, Bertone P, Breuning MH, Debili N (2012) Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 44(4):435–439.https://doi.org/10.1038/ng.1083

Article  CAS  Google Scholar 

Aleksandrov PN, Bogdanova VA, Chernukh AM (1965) The teratogenic effect of intermediate products of thalidomide synthesis upon the chick embryo. Farmakol Toksikol 28(6):744–747

CAS  PubMed  Google Scholar 

Ali I, Gupta VK, Aboul-Enein HY (2010) Supramolecular dynamics of thalidomide and its derivatives in water-sediment system. Chirality 22(4):416–424. https://doi.org/10.1002/chir.20757

Article  CAS  PubMed  Google Scholar 

Allen HF, Wade PA, Kutateladze TG (2013) The NuRD architecture. Cell Mol Life Sci 70(19):3513–3524.https://doi.org/10.1007/s00018-012-1256-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alles AJ, Sulik KK (1989) Retinoic-acid-induced limb-reduction defects: perturbation of zones of programmed cell death as a pathogenetic mechanism. Teratology 40(2):163–171. https://doi.org/10.1002/tera.1420400210

Article  CAS  PubMed  Google Scholar 

Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al BM (2012) A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.Am J Med Genet A 158A(10):2610–2615. https://doi.org/10.1002/ajmg.a.35584

Article  CAS  PubMed  Google Scholar 

Al-Qattan MM (2013) Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. Ann Plast Surg 70(1):116–118. https://doi.org/10.1097/SAP.0b013e31822f9960

Article  CAS  PubMed  Google Scholar 

Al-Qattan MM, Abou A-S (2015) Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.Gene 560(2):129–136. https://doi.org/10.1016/j.gene.2015.02.017

Article  CAS  PubMed  Google Scholar 

Alsanosi SMM, Skiffington C, Padmanabhan S (2014) Chapter 17—Pharmacokinetic pharmacogenomics. In:Padmanabhan S (ed) Handbook of pharmacogenomics and stratified medicine. Academic Press, Cambridge, pp 341–364.(eBook ISBN: 9780123868831; Hardcover ISBN: 9780123868824).

Alter BP, Rosenberg PS, Brody LC (2007) Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 44(1):1–9. https://doi.org/10.1136/jmg.2006.043257

Article  CAS  PubMed  Google Scholar 

Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA (2011) Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. Hum Mol Genet 20(20):3943–3952. https://doi.org/10.1093/hmg/ddr313

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alves LU, Perez ABA, Alonso LG, Otto PA, Mingroni-Netto RC (2016) Novel frameshift variant in gene SALL4 causing Okihiro syndrome. Eur J Med Genet 59(2016):80–85. https://doi.org/10.1016/j.ejmg.2015.12.015

Article  PubMed  Google Scholar 

Amirshahrokhi K (2021) Thalidomide reduces glycerol-induced acute kidney injury by inhibition of NF-κB, NLRP3 inflammasome, COX-2 and inflammatory cytokines. Cytokine 144:155574. https://doi.org/10.1016/j.cyto.2021.155574

Article  CAS  PubMed  Google Scholar 

Anamthathmakula P, Winuthayanon W (2021) Prostaglandin-endoperoxide synthase 2 (PTGS2) in the oviduct: Roles in fertilization and early embryo development. Endocrinology 162(4):25. https://doi.org/10.1210/endocr/bqab025

Article  CAS  Google Scholar 

Ando Y, Fuse E, Figg WD (2002a) Thalidomide metabolism by the CYP2C subfamily. Clin Cancer Res 8(6):1964–1973

CAS  PubMed  Google Scholar 

Ando Y, Price DK, Dahut WL, Cox MC, Reed E, Figg WD (2002b) Pharmacogenetic associations of CYP2C19 genotype with in vivo metabolisms and pharmacological effects of thalidomide. Cancer Biol Ther 1(6):669–673. https://doi.org/10.4161/cbt.318

Article  CAS  PubMed  Google Scholar 

Anyane-Yeboa K, Jaramillo S, Nagel C, Grebin B (1985) Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome). Am J Med Genet 20:571–576. https://doi.org/10.1002/ajmg.1320200402

Article  CAS  PubMed  Google Scholar 

Apgar V (1966) The drug problem in pregnancy. Clin Obstet Gynecol 9(3):623–630. https://doi.org/10.1097/00003081-196609000-00004

Article  CAS  PubMed  Google Scholar 

Appelt J, Gerken H, Lenz W (1966) Tetraphokomelie mit Lippen–Kiefer–Gaumenspalte und Klitorishypertrophie–ein Syndrom. Paediat Paedol 2:119–124

Google Scholar 

Arbab-Zadeh A (1966) Toxische und teratogene wirkungen des thalidomide [Toxic and teratogenic effects of thalidomide]. Dtsch Z Gesamte Gerichtl Med 57(1):285–290

CAS  PubMed  Google Scholar 

Arias S, Penchaszadeh VB, Pinto-Cisternas J, Larrauri S, Opitz JM, Opitz JM (1980) The IVIC syndrome: a new autosomal dominant complex pleitropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. Am J Med Genet 6(1):25–59. https://doi.org/10.1002/ajmg.1320060105

Article  CAS  PubMed 

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