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Page 1
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC article.
Molecular Mechanisms of the Anti-Inflammatory Effects of Epigallocatechin 3-Gallate (EGCG) in LPS-Activated BV-2 Microglia Cells.
Payne A, Taka E, Adinew GM, Soliman KFA. Payne A, et al. Brain Sci. 2023 Apr 7;13(4):632. doi: 10.3390/brainsci13040632. Brain Sci. 2023. PMID: 37190597 Free PMC article.
Cytotoxicity and nitric oxide (NO) production were evaluated. Immunoassay, PCR array, and WES Technology were utilized to evaluate inflammatory, neuroprotective modulators as well as signaling pathways involved in the mechanistic action of neuroinflammation. ...
Cytotoxicity and nitric oxide (NO) production were evaluated. Immunoassay, PCR array, and WES Technology were utilized to evaluate in …
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klämbt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F. Schneider R, et al. Am J Hum Genet. 2020 Dec 3;107(6):1113-1128. doi: 10.1016/j.ajhg.2020.11.008. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232676 Free PMC article.
The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and their effectors, including the formin INF2. By whole-exome sequencing (WES), we here discovered bi-allelic variants in the formin DA …
The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and …
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
Wu CW, Lim TY, Wang C, Seltzsam S, Zheng B, Schierbaum L, Schneider S, Mann N, Connaughton DM, Nakayama M, van der Ven AT, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Turudic D, Al Saffar M, Awad HS, Eid LA, Ramanathan A, Senguttuvan P, Mane SM, Lee RS, Bauer SB, Lu W, Hilger AC, Tasic V, Shril S, Sanna-Cherchi S, Hildebrandt F. Wu CW, et al. Eur Urol Open Sci. 2022 Sep 1;44:106-112. doi: 10.1016/j.euros.2022.08.004. eCollection 2022 Oct. Eur Urol Open Sci. 2022. PMID: 36185583 Free PMC article.
OBJECTIVE: To detect CNVs causing CAKUT in this WES cohort and increase the diagnostic yield. DESIGN SETTING AND PARTICIPANTS: We performed a genome-wide single nucleotide polymorphism (SNP)-based CNV analysis on the same CAKUT cohort for whom WES was previously con …
OBJECTIVE: To detect CNVs causing CAKUT in this WES cohort and increase the diagnostic yield. DESIGN SETTING AND PARTICIPANTS: We per …
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.
Sakka R, Abdelhedi F, Sellami H, Pichon B, Lajmi Y, Mnif M, Kebaili S, Derbel R, Kamoun H, Gdoura R, Delbaere A, Desir J, Abramowicz M, Vialard F, Dupont JM, Ammar-Keskes L. Sakka R, et al. Eur J Med Genet. 2022 Nov;65(11):104613. doi: 10.1016/j.ejmg.2022.104613. Epub 2022 Sep 14. Eur J Med Genet. 2022. PMID: 36113757
We report on the results of array-CGH and Whole exome sequencing (WES) studies carried out in a Tunisian family with 46,XX premature ovarian insufficiency (POI). ...
We report on the results of array-CGH and Whole exome sequencing (WES) studies carried out in a Tunisian family with 46,XX premature …
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Mazen I, Mekkawy M, Kamel A, Essawi M, Hassan H, Abdel-Hamid M, Amr K, Soliman H, El-Ruby M, Torky A, El Gammal M, Elaidy A, Bashamboo A, McElreavey K. Mazen I, et al. Am J Med Genet A. 2021 Jun;185(6):1666-1677. doi: 10.1002/ajmg.a.62129. Epub 2021 Mar 19. Am J Med Genet A. 2021. PMID: 33742552
Sanger sequencing identified pathogenic variants in 33.7% of 46,XY patients, while the detection rate of WES reached 66.7%. Our patients showed a different mutational profile compared with that reported in other populations with a predominance of heritable DSD causes. W …
Sanger sequencing identified pathogenic variants in 33.7% of 46,XY patients, while the detection rate of WES reached 66.7%. Our patie …
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F. Vivante A, et al. Pediatr Nephrol. 2019 Sep;34(9):1607-1613. doi: 10.1007/s00467-019-04256-0. Epub 2019 Apr 17. Pediatr Nephrol. 2019. PMID: 31001663 Free PMC article.
However, the prevalence of PAX2 mutations among large cohort of children with steroid-resistant nephrotic syndrome (SRNS) and FSGS has not been systematically studied. METHODS: We employed whole-exome sequencing (WES) to identify the percentage of SRNS cases explained by m …
However, the prevalence of PAX2 mutations among large cohort of children with steroid-resistant nephrotic syndrome (SRNS) and FSGS has not b …
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, van der Ven A, Daouk G, Soliman NA, Kumar AS, Senguttuvan P, Kehinde EO, Tasic V, Hildebrandt F. Vivante A, et al. J Am Soc Nephrol. 2017 Jan;28(1):69-75. doi: 10.1681/ASN.2015080962. Epub 2016 May 5. J Am Soc Nephrol. 2017. PMID: 27151922 Free PMC article.
To determine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous families. Using homozygosity mapping and WES, we identified the causative mutations in nine of …
To determine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with …
The Anticancer Effects of Marine Carotenoid Fucoxanthin through Phosphatidylinositol 3-Kinase (PI3K)-AKT Signaling on Triple-Negative Breast Cancer Cells.
Ahmed SA, Mendonca P, Messeha SS, Oriaku ET, Soliman KFA. Ahmed SA, et al. Molecules. 2023 Dec 21;29(1):61. doi: 10.3390/molecules29010061. Molecules. 2023. PMID: 38202644 Free PMC article.
The methods used in this study include a cytotoxic assay, PI3K-AKT signaling pathway PCR arrays, and Wes analysis. Fucoxanthin (6.25 M) + TNF-alpha (50 ng/mL) and TNF-alpha (50 ng/mL) showed no significant effect on cell viability compared to the control in both MDA-MB-231 …
The methods used in this study include a cytotoxic assay, PI3K-AKT signaling pathway PCR arrays, and Wes analysis. Fucoxanthin (6.25 …
11 results