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thalidomide and Acrorenoocular Syndrome

thalidomide has been researched along with Acrorenoocular Syndrome in 10 studies

Thalidomide: A piperidinyl isoindole originally introduced as a non-barbiturate hypnotic, but withdrawn from the market due to teratogenic effects. It has been reintroduced and used for a number of immunological and inflammatory disorders. Thalidomide displays immunosuppressive and anti-angiogenic activity. It inhibits release of TUMOR NECROSIS FACTOR-ALPHA from monocytes, and modulates other cytokine action.
thalidomide : A racemate comprising equimolar amounts of R- and S-thalidomide.
2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione : A dicarboximide that is isoindole-1,3(2H)-dione in which the hydrogen attached to the nitrogen is substituted by a 2,6-dioxopiperidin-3-yl group.

Research Excerpts

ExcerptRelevanceReference
"Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy."7.91The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis. ( Fraga, LR; Gomes, JDA; Kowalski, TW; Macedo, GS; Sanseverino, MTV; Schuler-Faccini, L; Vianna, FSL, 2019)
"Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy."3.91The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis. ( Fraga, LR; Gomes, JDA; Kowalski, TW; Macedo, GS; Sanseverino, MTV; Schuler-Faccini, L; Vianna, FSL, 2019)
"We found that Duane syndrome and its variants were prominent in individuals who were exposed to thalidomide early in the sensitive period (days 20 to 26±)."2.47What can we learn from the thalidomide experience: an ophthalmologic perspective. ( Miller, MT; Strömland, KK, 2011)
"Most reported cases are associated with Duane syndrome."2.44Congenital aberrant tearing: a re-look. ( Miller, MT; Strömland, K; Ventura, L, 2008)
"We have recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene SALL4 on chromosome 20q13."1.32Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. ( Becker, K; Kohlhase, J; Liebers, M; Mohammed, SN; Newbury-Ecob, R; Rauch, A; Reardon, W; Schubert, L, 2003)

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (20.00)18.2507
2000's3 (30.00)29.6817
2010's5 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Donovan, KA1
An, J1
Nowak, RP1
Yuan, JC1
Fink, EC1
Berry, BC1
Ebert, BL1
Fischer, ES1
Gomes, JDA1
Kowalski, TW1
Fraga, LR1
Macedo, GS1
Sanseverino, MTV1
Schuler-Faccini, L1
Vianna, FSL1
Parsa, CF1
Robert, MP1
Hoyt, CS1
Miller, MT4
Strömland, K2
Ventura, L1
Strömland, KK1
Kohlhase, J2
Schubert, L1
Liebers, M1
Rauch, A1
Becker, K1
Mohammed, SN1
Newbury-Ecob, R1
Reardon, W1
Holmes, LB1

Reviews

3 reviews available for thalidomide and Acrorenoocular Syndrome

ArticleYear
Congenital aberrant tearing: a re-look.
    Transactions of the American Ophthalmological Society, 2008, Volume: 106

    Topics: Abnormalities, Drug-Induced; Duane Retraction Syndrome; Eye Abnormalities; Female; Humans; Lacrimal

2008
What can we learn from the thalidomide experience: an ophthalmologic perspective.
    Current opinion in ophthalmology, 2011, Volume: 22, Issue:5

    Topics: Abnormalities, Drug-Induced; Duane Retraction Syndrome; Eye Abnormalities; Female; Humans; Limb Defo

2011
Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus.
    Transactions of the American Ophthalmological Society, 1991, Volume: 89

    Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Duane Retraction Syndrome; Embryo, Mamm

1991

Other Studies

7 other studies available for thalidomide and Acrorenoocular Syndrome

ArticleYear
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.
    eLife, 2018, 08-01, Volume: 7

    Topics: Abnormalities, Multiple; Adaptor Proteins, Signal Transducing; Amino Acid Sequence; CYS2-HIS2 Zinc F

2018
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
    Scientific reports, 2019, 08-06, Volume: 9, Issue:1

    Topics: Abnormalities, Multiple; Acetyltransferases; Brazil; Cell Line; Chromosomal Proteins, Non-Histone; C

2019
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.
    JAMA ophthalmology, 2013, Volume: 131, Issue:4

    Topics: Abducens Nerve; Abnormalities, Drug-Induced; Duane Retraction Syndrome; Eye Abnormalities; Female; F

2013
No, not more talk about Duane syndrome.
    JAMA ophthalmology, 2013, Volume: 131, Issue:4

    Topics: Abnormalities, Drug-Induced; Duane Retraction Syndrome; Eye Abnormalities; Female; Fetal Diseases; H

2013
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.
    Journal of medical genetics, 2003, Volume: 40, Issue:7

    Topics: Abnormalities, Multiple; Base Sequence; Chromosomes, Human, Pair 20; DNA; DNA Mutational Analysis; D

2003
Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.
    Birth defects research. Part A, Clinical and molecular teratology, 2004, Volume: 70, Issue:8

    Topics: Duane Retraction Syndrome; Fathers; Female; Hearing Loss; Humans; Male; Mutation; Pregnancy; Prenata

2004
Thalidomide embryopathy: revisited 27 years later.
    Acta ophthalmologica, 1993, Volume: 71, Issue:2

    Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Duane Retraction Syndrome; Eye Abnormal

1993