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  • 1
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    The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China
    Wiley ; 2020
    In:  Movement Disorders Vol. 35, No. 8 ( 2020-08), p. 1428-1437
    Details
    In: Movement Disorders, Wiley, Vol. 35, No. 8 ( 2020-08), p. 1428-1437
    Abstract: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline‐rich transmembrane protein 2 have been identified as the major pathogenic factor. Objectives We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy. Methods The China Paroxysmal Dyskinesia Collaborative Group was composed of departments of neurology from 22 hospitals. Clinical manifestations and proline‐rich transmembrane protein 2 screening results were recorded using unified paroxysmal kinesigenic dyskinesia registration forms. Genotype‐phenotype correlation analyses were conducted in patients with and without proline‐rich transmembrane protein 2 mutations. High‐knee exercises were applied in partial patients as a new diagnostic test to induce attacks. Results Kinesigenic triggers, male predilection, dystonic attacks, aura, complicated forms of paroxysmal kinesigenic dyskinesia, clustering in patients with family history, and dramatic responses to antiepileptic treatment were the prominent features in this multicenter study. Clinical analysis showed that proline‐rich transmembrane protein 2 mutation carriers were prone to present at a younger age and have longer attack duration, bilateral limb involvement, choreic attacks, a complicated form of paroxysmal kinesigenic dyskinesia, family history, and more forms of dyskinesia. The new high‐knee‐exercise test efficiently induced attacks and could assist in diagnosis. Conclusions We propose recommendations regarding diagnostic criteria for paroxysmal kinesigenic dyskinesia based on this large clinical study of paroxysmal kinesigenic dyskinesia. The findings offered some new insights into the diagnosis and treatment of paroxysmal kinesigenic dyskinesia and might help in building standardized paroxysmal kinesigenic dyskinesia clinical evaluations and therapies. © 2020 International Parkinson and Movement Disorder Society
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v35.8
    DOI: 10.1002/mds.28061
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2041249-6
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  • 2
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    TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large‐Sample Study
    Wiley ; 2022
    In:  Movement Disorders Vol. 37, No. 3 ( 2022-03), p. 545-552
    Details
    In: Movement Disorders, Wiley, Vol. 37, No. 3 ( 2022-03), p. 545-552
    Abstract: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one‐third of PKD patients are attributed to proline‐rich transmembrane protein 2 ( PRRT2 ) mutations. Objective We aimed to explore the potential causative gene for PKD. Methods A cohort of 196 PRRT2 ‐negative PKD probands were enrolled for whole‐exome sequencing (WES). Gene Ranking, Identification and Prediction Tool, a method of case–control analysis, was applied to identify the candidate genes. Another 325 PRRT2 ‐negative PKD probands were subsequently screened with Sanger sequencing. Results Transmembrane Protein 151 ( TMEM151A) variants were mainly clustered in PKD patients compared with the control groups. 24 heterozygous variants were detected in 25 of 521 probands (frequency = 4.80%), including 18 missense and 6 nonsense mutations. In 29 patients with TMEM151A variants, the ratio of male to female was 2.63:1 and the mean age of onset was 12.93 ± 3.15 years. Compared with PRRT2 mutation carriers, TMEM151A ‐related PKD were more common in sporadic PKD patients with pure phenotype. There was no significant difference in types of attack and treatment outcome between TMEM151A ‐positive and PRRT2 ‐positive groups. Conclusions We consolidated mutations in TMEM151A causing PKD with the aid of case–control analysis of a large‐scale WES data, which broadens the genotypic spectrum of PKD. TMEM151A ‐related PKD were more common in sporadic cases and tended to present as pure phenotype with a late onset. Extensive functional studies are needed to enhance our understanding of the pathogenesis of TMEM151A ‐related PKD. © 2021 International Parkinson and Movement Disorder Society
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v37.3
    DOI: 10.1002/mds.28865
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2041249-6
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  • 3
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    Contrast‐enhanced harmonic endoscopic ultrasound (CH‐EUS) MASTER: A novel deep learning‐based system in pancreatic mass diagnosis
    Wiley ; 2023
    In:  Cancer Medicine Vol. 12, No. 7 ( 2023-04), p. 7962-7973
    Details
    In: Cancer Medicine, Wiley, Vol. 12, No. 7 ( 2023-04), p. 7962-7973
    Abstract: Distinguishing pancreatic cancer from nonneoplastic masses is critical and remains a clinical challenge. The study aims to construct a deep learning‐based artificial intelligence system to facilitate pancreatic mass diagnosis, and to guide EUS‐guided fine‐needle aspiration (EUS‐FNA) in real time. Methods This is a prospective study. The CH‐EUS MASTER system is composed of Model 1 (real‐time capture and segmentation) and Model 2 (benign and malignant identification). It was developed using deep convolutional neural networks and Random Forest algorithm. Patients with pancreatic masses undergoing CH‐EUS examinations followed by EUS‐FNA were recruited. All patients underwent CH‐EUS and were diagnosed both by endoscopists and CH‐EUS MASTER. After diagnosis, they were randomly assigned to undergo EUS‐FNA with or without CH‐EUS MASTER guidance. Results Compared with manual labeling by experts, the average overlap rate of Model 1 was 0.708. In the independent CH‐EUS video testing set, Model 2 generated an accuracy of 88.9% in identifying malignant tumors. In clinical trial, the accuracy, sensitivity, and specificity for diagnosing pancreatic masses by CH‐EUS MASTER were significantly better than that of endoscopists. The accuracy, sensitivity, specificity, positive predictive value, and negative predictive value were respectively 93.8%, 90.9%, 100%, 100%, and 83.3% by CH‐EUS MASTER guided EUS‐FNA, and were not significantly different compared to the control group. CH‐EUS MASTER‐guided EUS‐FNA significantly improved the first‐pass diagnostic yield. Conclusion CH‐EUS MASTER is a promising artificial intelligence system diagnosing malignant and benign pancreatic masses and may guide FNA in real time. Trial registration number: NCT04607720.
    Type of Medium: Online Resource
    ISSN: 2045-7634 , 2045-7634
    URL: Issue
    URL: Article
    DOI: 10.1002/cam4.v12.7
    DOI: 10.1002/cam4.5578
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2659751-2
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  • 4
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    Proline‐rich transmembrane protein 2 – negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients
    Wiley ; 2018
    In:  Movement Disorders Vol. 33, No. 3 ( 2018-03), p. 459-467
    Details
    In: Movement Disorders, Wiley, Vol. 33, No. 3 ( 2018-03), p. 459-467
    Abstract: Background : Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide are attributable to proline‐rich transmembrane protein 2 mutations. Objective : The objective of this study was to investigate potential causative genes and clinical characteristics in proline‐rich transmembrane protein 2 – negative patients with paroxysmal kinesigenic dyskinesia. Methods : We analyzed clinical manifestations and performed exome sequencing in a cohort of 163 proline‐rich transmembrane protein 2–negative probands, followed by filtering data with a paroxysmal movement disorders gene panel. Sanger sequencing, segregation analysis, and phenotypic reevaluation were used to substantiate the findings. Results : The clinical characteristics of the enrolled 163 probands were summarized. A total of 39 heterozygous variants were identified, of which 33 were classified as benign, likely benign, and uncertain significance. The remaining 6 variants (3 novel, 3 documented) were pathogenic and likely pathogenic. Of these, 3 were de novo (potassium calcium‐activated channel subfamily M alpha 1, c.1534A 〉 G; solute carrier family 2 member 1, c.418G 〉 A; sodium voltage‐gated channel alpha subunit 8, c.3640G 〉 A) in 3 sporadic individuals, respectively. The other 3 (paroxysmal nonkinesiogenic dyskinesia protein, c.956dupA; potassium voltage‐gated channel subfamily A member 1, c.765C 〉 A; Dishevelled, Egl‐10, and Pleckstrin domain containing 5, c.3311C 〉 T) cosegregated in 3 families. All 6 cases presented with typical paroxysmal kinesigenic dyskinesia characteristics, except for the Dishevelled, Egl‐10, and Pleckstrin domain containing 5 family, where the proband's mother had abnormal discharges in her temporal lobes in addition to paroxysmal kinesigenic dyskinesia episodes. Conclusions : Our findings extend the genotypic spectrum of paroxysmal kinesigenic dyskinesia and establish the associations between paroxysmal kinesigenic dyskinesia and genes classically related to other paroxysmal movement disorders. De novo variants might be a cause of sporadic paroxysmal kinesigenic dyskinesia. © 2018 International Parkinson and Movement Disorder Society
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v33.3
    DOI: 10.1002/mds.27274
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 2041249-6
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  • 5
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    Radiomics Analysis of DTI Data to Assess Vision Outcome After Intravenous Methylprednisolone Therapy in Neuromyelitis Optic Neuritis
    Wiley ; 2019
    In:  Journal of Magnetic Resonance Imaging Vol. 49, No. 5 ( 2019-05), p. 1365-1373
    Details
    In: Journal of Magnetic Resonance Imaging, Wiley, Vol. 49, No. 5 ( 2019-05), p. 1365-1373
    Abstract: Neuromyelitis optica‐optic neuritis (NMO‐ON) patients are routinely treated with intravenous methylprednisolone (IVMP). For the patients nonresponsive to IVMP, more effective but aggressive therapy of plasma exchange (PE) should be employed instead of IVMP in the first line. Purpose To assess the visual outcomes of NMO‐ON patients after IVMP by radiomics analysis of whole brain diffusion tensor imaging (DTI) data. Study Type Retrospective. Population In all, 57 NMO‐ON patients receiving IVMP therapy for 3 days. Field Strength/Sequence 3.0T; DTI images acquired by a single‐shot echo planar image sequence; T 1 images acquired by 3D fast spoiled gradient echo (3D‐FSPGR) MRI. Assessment In all, 200 DTI measures were extracted from the DTI data and employed as features to construct a radiomics assessment model for visual outcomes of NMO‐ON patients after IVMP. The assessment performance was evaluated by area under the receiver operating characteristic curve (AUC), classification accuracy (ACC), sensitivity, specificity, and positive and negative predicted values (PPV and NPV). The selected DTI measures would reveal the white matter impairments related to visual recovery of NMO‐ON patients. Statistical Tests The relationship between the selected DTI measures and the clinical visual characteristics were investigated by Pearson correlation, Spearman's rank correlation, and one‐way analysis of variance analysis. Results The radiomics model obtained an ACC of 73.68% ( P  = 0.002), AUC of 0.7931, sensitivity of 0.6207, specificity of 0.8571, PPV of 0.8182, and NPV of 0.6857 in assessing visual outcomes of the NMO‐ON patients after IVMP treatment. The selected DTI measures revealed white matter impairments related to the visual outcomes in the white matter tracts of vision‐relevant regions, motor‐related regions, and corpus callosum. The white matter impairments were found significantly correlated with the disease duration and the length of lesions in the optic nerve. Data Conclusion Radiomics analysis of DTI data has great potential in assessing visual outcomes of NMO‐ON patients after IVMP therapy. Level of Evidence: 2 Technical Efficacy: Stage 4 J. Magn. Reson. Imaging 2019;49:1365–1373.
    Type of Medium: Online Resource
    ISSN: 1053-1807 , 1522-2586
    URL: Issue
    URL: Article
    DOI: 10.1002/jmri.v49.5
    DOI: 10.1002/jmri.26326
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 1497154-9
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  • 6
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    Transparent, flame‐retarded, self‐healable, mechanically strong polyurethane elastomers: Enabled by the synthesis of phosphorus/nitrogen‐containing oxime chain‐extender
    Wiley ; 2022
    In:  Journal of Applied Polymer Science Vol. 139, No. 6 ( 2022-02-10)
    Details
    In: Journal of Applied Polymer Science, Wiley, Vol. 139, No. 6 ( 2022-02-10)
    Abstract: Polyurethane (PU) elastomer has been widely used due to its excellent mechanics, acid and alkali resistance, abrasion resistance, and other properties. However, obtaining simultaneous mechanically strong, flame‐retarded, transparent, and efficient self‐heal ability of PU elastomer is of great challenge due to the structural design. Here, a phosphorus/nitrogen‐containing Oxime chain extender (PSK‐2) was introduced into the synthesis of PU elastomers to obtain a transparent, flame‐retarded, self‐healable, mechanically strong PU elastomers. The PU elastomers exhibited high tensile strength of ~23.3 MPa, breaking strain of ~1693%, good flame retardancy with high LOI of ~29.2%, and UL‐94 V1 rating with the addition of 4.67 mmol (mass fraction 1.37 wt%) PSK2. Furthermore, the PUPSK2 elastomer material also had good healing ability up to 60% at room temperature and good transparency of 83.7% at 350–800 nm visible.
    Type of Medium: Online Resource
    ISSN: 0021-8995 , 1097-4628
    URL: Issue
    URL: Article
    DOI: 10.1002/app.v139.6
    DOI: 10.1002/app.51598
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 1491105-X
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  • 7
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    Periodic Mesoporous Organosilica Coated Prussian Blue for MR/PA Dual‐Modal Imaging‐Guided Photothermal‐Chemotherapy of Triple Negative Breast Cancer
    Wiley ; 2017
    In:  Advanced Science Vol. 4, No. 3 ( 2017-03)
    Details
    In: Advanced Science, Wiley, Vol. 4, No. 3 ( 2017-03)
    Abstract: Complete eradication of highly aggressive triple negative breast cancer (TNBC) remains a notable challenge today. In this work, an imaging‐guided photothermal‐chemotherapy strategy for TNBC is developed for the first time based on a periodic mesoporous organosilica (PMO) coated Prussian blue (PB@PMO) nanoplatform. The PB@PMOs have organic‐inorganic hybrid frameworks, uniform diameter (125 nm), high surface area (866 m 2 g −1 ), large pore size (3.2 nm), excellent photothermal conversion capability, high drug loading capacity (260 µg mg −1 ), and magnetic resonance (MR) and photoacoustic (PA) imaging abilities. The MR and PA properties of the PB@PMOs are helpful for imaging the tumor and showing the accumulation of the nanoplatform in the tumor region. The bioluminescence intensity and tumor volume of the MDA‐MB‐231‐Luc tumor‐bearing mouse model demonstrate that TNBC can be effectively inhibited by the combined photothermal‐chemotherapy than monotherapy strategy. Histopathological analysis further reveals that the combination therapy results in most extensive apoptotic and necrotic cells in the tumor without inducing obvious side effect to major organs.
    Type of Medium: Online Resource
    ISSN: 2198-3844 , 2198-3844
    URL: Issue
    URL: Article
    DOI: 10.1002/advs.v4.3
    DOI: 10.1002/advs.201600356
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 2808093-2
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  • 8
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    PTEN inhibition attenuates endothelial cell apoptosis in coronary heart disease via modulating the AMPK–CREB–Mfn2‐mitophagy signaling pathway
    Wiley ; 2020
    In:  Journal of Cellular Physiology Vol. 235, No. 5 ( 2020-05), p. 4878-4889
    Details
    In: Journal of Cellular Physiology, Wiley, Vol. 235, No. 5 ( 2020-05), p. 4878-4889
    Abstract: Atherosclerosis (AS) is a major pathogenic factor in patients with cardiovascular diseases, and endothelial dysfunction (ED) plays a primary role in the occurrence and development of AS. In our study, we attempted to evaluate the role of phosphatase and tensin homolog (PTEN) in endothelial cell apoptosis under oxidized low‐density lipoprotein (ox‐LDL) stimulation and identify the associated mechanisms. The results of our study demonstrated that ox‐LDL induced human umbilical vein endothelial cell (HUVEC) death via mitochondrial apoptosis, as evidenced by reduced mitochondrial potential, increased mitochondria permeability transition pore opening, cellular calcium overload, and caspase‐9/‐3 activation. In addition, ox‐LDL also suppressed cellular energy production via downregulating the mitochondrial respiratory complex. Moreover, ox‐LDL impaired HUVECs migration. Western blot analysis showed that PTEN expression was upregulated after exposure to ox‐LDL and knockdown of PTEN could attenuate ox‐LDL‐mediated endothelial cell damage. Furthermore, we found that ox‐LDL impaired mitophagy activity, whereas PTEN deletion could improve mitophagic flux and this effect relied on the activity of the AMP‐activated protein kinase (AMPK)–cAMP‐response element‐binding protein (CREB)–Mitofusin‐2 (Mfn2) axis. When the AMPK–CREB–Mfn2 pathway was inhibited, PTEN deletion‐associated HUVECs protection was significantly reduced, suggesting that the AMPK–CREB–Mfn2‐mitophagy axis is required for PTEN deletion‐mediated endothelial cell survival under ox‐LDL. Taken together, our results indicate that ox‐LDL‐induced endothelial cell damage is associated with PTEN overexpression, and inhibition of PTEN could promote endothelial survival via activating the AMPK–CREB–Mfn2‐mitophagy signaling pathway.
    Type of Medium: Online Resource
    ISSN: 0021-9541 , 1097-4652
    URL: Issue
    URL: Article
    DOI: 10.1002/jcp.v235.5
    DOI: 10.1002/jcp.29366
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 1478143-8
    SSG: 12
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  • 9
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    Clusterin suppresses spermatogenic cell apoptosis to alleviate diabetes‐induced testicular damage by inhibiting autophagy via the PI3K/AKT/mTOR axis
    Wiley ; 2021
    In:  Biology of the Cell Vol. 113, No. 1 ( 2021-01), p. 14-27
    Details
    In: Biology of the Cell, Wiley, Vol. 113, No. 1 ( 2021-01), p. 14-27
    Abstract: Diabetes‐induced testicular dysfunction is characterised by abnormal apoptosis of spermatogenic cells, but the underlying mechanism is poorly understood. This study aimed to investigate the roles of clusterin (CLU) in testicular damage associated with diabetes pathogenesis, as well as the molecular mechanism. A rat diabetes model was established using streptozocin, and the mouse spermatogenic cell line GC‐1 spg was treated with high glucose as a cellular model. CLU was overexpressed in GC‐1 spg cells, followed by detection of serum testosterone, cell proliferation, cell apoptosis and autophagy. Results CLU expression was significantly reduced and LC3 expression was elevated in testis tissues in the rat diabetes model and high glucose‐treated GC‐1 spg cells. High glucose led to suppressed viability, enhanced apoptosis, reduced Bcl‐2 expression, elevated Bax expression and cleavage of Caspase‐3/‐9 in GC‐1 spg cells, and these effects were abrogated by CLU overexpression. Additionally, CLU overexpression repressed LC3 and Beclin‐1 expression, reduced the LC3II/LC3I ratio and promoted p62 expression in GC‐1 spg cells in the presence of high glucose, and these effects were all mitigated by rapamycin treatment. Inhibition of PI3K/AKT/mTOR signalling with LY294002 activated autophagy in CLU‐overexpressing GC‐1 spg cells under high glucose conditions. CLU overexpression repressed autophagy and alleviated testicular damage in diabetic rats, which was also abrogated by LY294002 treatment. Conclusions CLU expression is suppressed during diabetes‐induced testicular damage, whereas CLU overexpression alleviates diabetes‐induced testicular damage by activating PI3K/AKT/mTOR signalling to inhibit autophagy and further repress spermatogenic cell apoptosis.
    Type of Medium: Online Resource
    ISSN: 0248-4900 , 1768-322X
    URL: Issue
    URL: Article
    DOI: 10.1111/boc.v113.1
    DOI: 10.1111/boc.202000030
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2011750-4
    SSG: 12
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  • 10
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    Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis
    Wiley ; 2016
    In:  International Journal of Dermatology Vol. 55, No. 2 ( 2016-02), p. 201-207
    Details
    In: International Journal of Dermatology, Wiley, Vol. 55, No. 2 ( 2016-02), p. 201-207
    Abstract: Autosomal recessive congenital ichthyosis ( ARCI ) is a group of genetically heterogeneous diseases. Mutations in transglutaminase ( TG ase) 1 gene ( TGM 1, OMIM 190195) have been implicated in ARCI . However, little is known about TGM 1 mutations in the Chinese population, and no functional studies have investigated the biological effect of mutant TGM1 on human epidermal keratinocytes (HaCaT) cells. Objectives To identify the pathogenic mutations of TGM 1 gene in two Chinese siblings with ARCI and gain insight into functional consequences of these mutations. Methods Fifteen exons and flanking splice sites of TGM1 gene were amplified by polymerase chain reaction and then underwent bidirectional Sanger sequencing. The HaCaT cells were transfected with lentiviral vectors, which overexpressed either wild‐type or mutant TGM1 cDNA s with deleted homeodomain. Cell proliferation and cell cycle progression were detected. The expression of cyclin D1, cyclin B1, CDK4, TGM1, K10, involucrin, and filaggrin proteins were investigated by Western blot analysis. Results We found two compound heterozygous missense mutations (c.515C 〉 T, R143C in exon 3 and c.759C 〉 T, S212F in exon 4) in both siblings. HaCaT cells transfected with mutant TGM1 cDNA s displayed a lower growth rate and delayed S phase while overexpression of wild‐type TGM1 cDNA s led to accelerated growth. HaCaT cells transfected with mutant TGM1 cDNA s displayed lower expression of differentiation markers such as involucrin and filaggrin. Our findings suggest that the compound heterozygous missense (c.515C 〉 T, R143C) mutations in exon 3 and missense (c.759C 〉 T, S212F) mutations in exon 4 result in the phenotype of ARCI. TGM1 mutations can suppress keratinocyte growth and cornified cell envelope formation.
    Type of Medium: Online Resource
    ISSN: 0011-9059 , 1365-4632
    URL: Issue
    URL: Article
    DOI: 10.1111/ijd.2016.55.issue-2
    DOI: 10.1111/ijd.12806
    Language: English
    Publisher: Wiley
    Publication Date: 2016
    detail.hit.zdb_id: 2020365-2
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