Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in
            <i>
              <scp>SDR</scp>
              9C7
            </i>

Takeichi, Takuya; Nomura, Toshifumi; Takama, Hiroyuki; Kono, Michihiro; Sugiura, Kazumitsu; Watanabe, Daisuke; Shimizu, Hiroshi; Simpson, Michael A.; McGrath, John A.; Akiyama, Masashi

doi:10.1111/bjd.15315

Cited by 24 publications

(25 citation statements)

References 7 publications

(12 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is unclear whether frameshift mutations lead to a more severe phenotype. P2 and the cases of Takeichi et al 4 and Karim et al 5 presented a CB phenotype at birth and all of these cases carried frameshift mutations in SDR9C7. However, P5 and the patients of Mohamad et al 3 also carried frameshift mutations, but were not born as a CB.…”

mentioning

confidence: 91%

“…It is unclear whether frameshift mutations lead to a more severe phenotype. P2 and the cases of Takeichi et al . and Karim et al .…”

mentioning

confidence: 93%

“…Dear Editor , Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with the following genes: ABCA12 , ALOX12B , ALOXE3 , CERS3 , CYP4F22 , NIPAL4 , TGM1 , PNPLA1 and recently SDR9C7 and SULT2B1 . Furthermore, seven patients from a large consanguineous family were described as having ARCI resulting from a homozygous mutation in LIPN ; however, the first symptoms did not appear until the age of 5 years and the criterion of a congenital form of ichthyosis was not fulfilled.…”

mentioning

confidence: 99%

“…The mutation c.112G>A seems to be a recurrent mutation that is predicted to impair a highly conserved region. Our results strongly support the findings of previous studies, and thus provide further evidence that SDR9C7 is a novel causative gene for ARCI. Further analyses are necessary to understand the function of the SDR9C7 protein in the skin, the interaction with other proteins and the pathological pathway.…”

mentioning

confidence: 99%

See 3 more Smart Citations

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

et al. 2018

View full text Add to dashboard Cite

mentioning

confidence: 91%

“…It is unclear whether frameshift mutations lead to a more severe phenotype. P2 and the cases of Takeichi et al . and Karim et al .…”

mentioning

confidence: 93%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

et al. 2018

View full text Add to dashboard Cite

“…[18][19][20][21][22][23][24][25][26] Human skin and blood studies have been limited to a few patients or select ichthyosis subtypes and have shown abnormalities in lipid, cornified envelope (CE), and/or other differentiation measures. 18,[27][28][29][30][31][32][33][34][35][36][37][38][39][40] Several observations link ichthyoses, particularly Netherton syndrome (NS), to atopic dermatitis (AD), which is marked by epidermal barrier defects and immune dysregulation. 41 NS shares the eosinophilia and increased T H 2/atopy-related markers (thymic stromal lymphopoietin [TSLP], chemokine like 17 [CCL17]/ thymus and activation-regulated chemokine, and IgE) of AD, 18,20,[42][43][44][45][46][47][48][49] and polymorphisms of serine protease inhibitor, Kazal-type 5 (mutated in patients with NS) are associated with AD.…”

mentioning

confidence: 99%

Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature

Malik

Huynh

et al. 2019

Journal of Allergy and Clinical Immunology

View full text Add to dashboard Cite

show abstract

Non-medical Switching from Originator Tumor Necrosis Factor Inhibitors to Their Biosimilars: Systematic Review of Randomized Controlled Trials and Real-World Studies

Numan

Faccin

2018

Adv Ther

View full text Add to dashboard Cite

Tumor necrosis factor (TNF) inhibitors are widely used biologics for the treatment of several chronic inflammatory diseases. The launch of anti-TNF biosimilars has introduced the possibility of non-medical switching between originator biologics and their biosimilars. However, the potential clinical and patient-reported consequences of non-medical switching remain largely unknown, as much of the evidence comes from poorly or uncontrolled real-world evidence (RWE) studies that often have an element of bias and nonstandardized outcome measures. To appropriately evaluate the safety, efficacy, and immunogenicity of non-medical switching from an originator to its biosimilar, we propose that seven key study design elements should be considered when assessing the existing evidence: studies should be (1) randomized and double-blind, (2) adequately controlled, and (3) adequately powered; include (4) multiple switching, (5) an assessment of immunogenicity, and (6) adequate follow-up duration; and (7) report individual patient-level outcomes. This systematic review assessed the robustness and consistency of the current non-medical switching evidence, with a focus on TNF inhibitors. A comprehensive literature search (January 2012–February 2018) identified 98 publications corresponding to 91 studies (17 randomized controlled trials and 74 RWE studies) describing non-medical switching from a TNF inhibitor originator to its biosimilar. When assessing the totality of this evidence, none of the non-medical switching studies conducted to date were found to use all seven of the key design elements, and the absence of these elements dilutes the robustness of the data. Furthermore, discontinuation rates varied widely among studies (0–87%), suggesting heterogeneity and inconclusiveness of the current efficacy, safety, and immunogenicity evidence, particularly at an individual patient level. Therefore, patients should not be indiscriminately switched from an originator TNF inhibitor to its biosimilar for non-medical reasons. Switching decisions should remain between the treating physicians and their patients and be made on a case-by-case basis, relying upon robust scientific evidence.Funding: AbbVie.Plain Language Summary: Plain language summary available for this article.Electronic supplementary materialThe online version of this article (10.1007/s12325-018-0742-9) contains supplementary material, which is available to authorized users.

show abstract

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR 9C7

Cited by 24 publications

References 7 publications

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature

Non-medical Switching from Originator Tumor Necrosis Factor Inhibitors to Their Biosimilars: Systematic Review of Randomized Controlled Trials and Real-World Studies

Contact Info

Product

Resources

About