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17 results on '"Medici-Van den Herik, Evita"'

1. Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

Author

Smits, Daphne J., Dekker, Jordy, Douben, Hannie, Schot, Rachel, Magee, Helen, Bakhtiari, Somayeh, Koehler, Katrin, Huebner, Angela, Schuelke, Markus, Darvish, Hossein, Vosoogh, Shohreh, Tafakhori, Abbas, Jameie, Melika, Taghiabadi, Ehsan, Wilson, Yana, Shah, Margit, van Slegtenhorst, Marjon A., Medici-van den Herik, Evita G., van Ham, Tjakko J., Kruer, Michael C., and Mancini, Grazia M.S.

Published
2024
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2. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands

Author

van Kleef, Esmee S.B., van de Camp, Sanne A.J.H., Groothuis, Jan T., Erasmus, Corrie E., Gaytant, Michael A., Vosse, Bettine A.H., de Weerd, Willemien, Verschuuren-Bemelmans, Corien C., Medici-Van den Herik, Evita G., Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Doorduin, Jonne, and Voermans, Nicol C.

Published
2024
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3. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands

Author

Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van de Camp, Sanne A J H, Groothuis, Jan T, Erasmus, Corrie E, Gaytant, Michael A, Vosse, Bettine A H, de Weerd, Willemien, Verschuuren-Bemelmans, Corien C, Medici-Van den Herik, Evita G, Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G M, Ottenheijm, Coen A C, Doorduin, Jonne, Voermans, Nicol C, Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van de Camp, Sanne A J H, Groothuis, Jan T, Erasmus, Corrie E, Gaytant, Michael A, Vosse, Bettine A H, de Weerd, Willemien, Verschuuren-Bemelmans, Corien C, Medici-Van den Herik, Evita G, Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G M, Ottenheijm, Coen A C, Doorduin, Jonne, and Voermans, Nicol C

Published
2024

4. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Author

Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., and Barakat, Tahsin Stefan

Published
2020
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5. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Author

Ragamin, Aviel, Gomes, Carolina C., Bindels-De Heus, Karen, Sandoval, Renata, Bassenden, Angelia V., Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van Den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, Van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, Gomez, Ricardo Santiago, Ragamin, Aviel, Gomes, Carolina C., Bindels-De Heus, Karen, Sandoval, Renata, Bassenden, Angelia V., Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van Den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, Van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, and Gomez, Ricardo Santiago

Abstract

Background Pathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713. Methods Here we report two unrelated women with a de novo germline p.Leu619Pro TRPV4 variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies. Results From an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4 p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage. Conclusion Our findings define a novel polysystemic syndrome due to germline TRPV4 p.Leu619Pro and further extend the spectrum of TRPV4 channelopathies. They further highlight the convergence of TRPV4 mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.

Published
2022

6. Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

Author

Lionarons, Judith M., primary, de Groot, Imelda J. M., additional, Fock, Johanna M., additional, Klinkenberg, Sylvia, additional, Vrijens, Desiree M. J., additional, Vreugdenhil, Anita C. E., additional, Medici-van den Herik, Evita G., additional, Cuppen, Inge, additional, Jaeger, Bregje, additional, Niks, Erik H., additional, Hoogerhuis, Rinske, additional, Platte-van Attekum, Nicky, additional, Feron, Frans J. M., additional, Faber, Catharina G., additional, Hendriksen, Jos G. M., additional, and Vles, Johan S. H., additional

Published
2021
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7. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing:A case report

Author

Eleftheriadou, Maria, Medici- van den Herik, Evita, Stuurman, Kyra, van Bever, Yolande, Hellebrekers, Debby M.E.I., van Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan, Eleftheriadou, Maria, Medici- van den Herik, Evita, Stuurman, Kyra, van Bever, Yolande, Hellebrekers, Debby M.E.I., van Slegtenhorst, Marjon, Ruijter, George, and Barakat, Tahsin Stefan

Abstract

Background: Isobutyryl-CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the essential branched-chain amino acid valine and is encoded by ACAD8. ACAD8 mutations lead to isobutyryl-CoA dehydrogenase deficiency (IBDD), which is identified by increased C4-acylcarnitine levels. Affected individuals are either asymptomatic or display a variety of symptoms during infancy, including speech delay, cognitive impairment, failure to thrive, hypotonia, and emesis. Methods: Here, we review all previously published IBDD patients and describe a girl diagnosed with IBDD who was presenting with autism as the main disease feature. Results: To assess whether a phenotype-genotype correlation exists that could explain the development or absence of clinical symptoms in IBDD, we compared CADD scores, in silico mutation predictions, LoF tolerance scores and C4-acylcarnitine levels between symptomatic and asymptomatic individuals. Statistical analysis of these parameters did not establish significant differences amongst both groups. Conclusion: As in our proband, trio whole exome sequencing did not establish an alternative secondary genetic diagnosis for autism, and reported long-term follow-up of IBDD patients is limited, it is possible that autism spectrum disorders could be one of the disease-associated features. Further long-term follow-up is suggested in order to delineate the full clinical spectrum associated with IBDD.

Published
2021

8. Prevalence of bladder and bowel dysfunction in duchenne muscular dystrophy using the childhood bladder and bowel dysfunction questionnaire

Author

Neurologen, Brain, Lionarons, Judith M., de Groot, Imelda J.M., Fock, Johanna M., Klinkenberg, Sylvia, Vrijens, Desiree M.J., Vreugdenhil, Anita C.E., Medici-Van Den Herik, Evita G., Cuppen, Inge, Jaeger, Bregje, Niks, Erik H., Hoogerhuis, Rinske, Platte-Van Attekum, Nicky, Feron, Frans J.M., Faber, Catharina G., Hendriksen, Jos G.M., Vles, Johan S.H., Neurologen, Brain, Lionarons, Judith M., de Groot, Imelda J.M., Fock, Johanna M., Klinkenberg, Sylvia, Vrijens, Desiree M.J., Vreugdenhil, Anita C.E., Medici-Van Den Herik, Evita G., Cuppen, Inge, Jaeger, Bregje, Niks, Erik H., Hoogerhuis, Rinske, Platte-Van Attekum, Nicky, Feron, Frans J.M., Faber, Catharina G., Hendriksen, Jos G.M., and Vles, Johan S.H.

Published
2021

9. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Author

Ragamin, Aviel, primary, Gomes, Carolina C, additional, Bindels-de Heus, Karen, additional, Sandoval, Renata, additional, Bassenden, Angelia V, additional, Dib, Luciano, additional, Kok, Fernando, additional, Alves, Julieta, additional, Mathijssen, Irene, additional, Medici-Van den Herik, Evita, additional, Eveleigh, Robert, additional, Gayden, Tenzin, additional, Pullens, Bas, additional, Berghuis, Albert, additional, van Slegtenhorst, Marjon, additional, Wilke, Martina, additional, Jabado, Nada, additional, Mancini, Grazia Maria Simonetta, additional, and Gomez, Ricardo Santiago, additional

Published
2021
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11. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Author

Perenthaler, Elena, primary, Nikoncuk, Anita, additional, Yousefi, Soheil, additional, Berdowski, Woutje M., additional, Alsagob, Maysoon, additional, Capo, Ivan, additional, van der Linde, Herma C., additional, van den Berg, Paul, additional, Jacobs, Edwin H., additional, Putar, Darija, additional, Ghazvini, Mehrnaz, additional, Aronica, Eleonora, additional, van IJcken, Wilfred F. J., additional, de Valk, Walter G., additional, Medici-van den Herik, Evita, additional, van Slegtenhorst, Marjon, additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Kohler, Jennefer N., additional, Bernstein, Jonathan A., additional, Monaghan, Kristin G., additional, Begtrup, Amber, additional, Torene, Rebecca, additional, Al Futaisi, Amna, additional, Al Murshedi, Fathiya, additional, Mani, Renjith, additional, Al Azri, Faisal, additional, Kamsteeg, Erik-Jan, additional, Mojarrad, Majid, additional, Eslahi, Atieh, additional, Khazaei, Zaynab, additional, Darmiyan, Fateme Massinaei, additional, Doosti, Mohammad, additional, Karimiani, Ehsan Ghayoor, additional, Vandrovcova, Jana, additional, Zafar, Faisal, additional, Rana, Nuzhat, additional, Kandaswamy, Krishna K., additional, Hertecant, Jozef, additional, Bauer, Peter, additional, AlMuhaizea, Mohammed A., additional, Salih, Mustafa A., additional, Aldosary, Mazhor, additional, Almass, Rawan, additional, Al-Quait, Laila, additional, Qubbaj, Wafa, additional, Coskun, Serdar, additional, Alahmadi, Khaled O., additional, Hamad, Muddathir H. A., additional, Alwadaee, Salem, additional, Awartani, Khalid, additional, Dababo, Anas M., additional, Almohanna, Futwan, additional, Colak, Dilek, additional, Dehghani, Mohammadreza, additional, Mehrjardi, Mohammad Yahya Vahidi, additional, Gunel, Murat, additional, Ercan-Sencicek, A. Gulhan, additional, Passi, Gouri Rao, additional, Cheema, Huma Arshad, additional, Efthymiou, Stephanie, additional, Houlden, Henry, additional, Bertoli-Avella, Aida M., additional, Brooks, Alice S., additional, Retterer, Kyle, additional, Maroofian, Reza, additional, Kaya, Namik, additional, van Ham, Tjakko J., additional, and Barakat, Tahsin Stefan, additional

Published
2019
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12. De novo TRPV4Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Author

Ragamin, Aviel, Gomes, Carolina C, Bindels-de Heus, Karen, Sandoval, Renata, Bassenden, Angelia V, Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, and Gomez, Ricardo Santiago

Abstract

BackgroundPathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713.MethodsHere we report two unrelated women with a de novo germline p.Leu619Pro TRPV4variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies.ResultsFrom an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage.ConclusionOur findings define a novel polysystemic syndrome due to germline TRPV4p.Leu619Pro and further extend the spectrum of TRPV4channelopathies. They further highlight the convergence of TRPV4mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.

Published
2022
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13. Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase

Author

Zevenbergen, Chantal, primary, Groeneweg, Stefan, additional, Swagemakers, Sigrid M A, additional, de Jong, Arthur, additional, Medici-Van den Herik, Evita, additional, Rispens, Madzy, additional, Klootwijk, Wim, additional, Medici, Marco, additional, de Rijke, Yolanda B, additional, Meima, Marcel E, additional, Larsen, P Reed, additional, Chavatte, Laurent, additional, Venter, Deon, additional, Peeters, Robin P, additional, Van der Spek, Peter J, additional, and Visser, W Edward, additional

Published
2018
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14. Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.

Author

Zevenbergen, Chantal, Groeneweg, Stefan, Swagemakers, Sigrid M A, de Jong, Arthur, Medici-Van den Herik, Evita, Rispens, Madzy, Klootwijk, Wim, Medici, Marco, de Rijke, Yolanda B, Meima, Marcel E, Larsen, P Reed, Chavatte, Laurent, Venter, Deon, Peeters, Robin P, Van der Spek, Peter J, and Visser, W Edward

Abstract

Thyroid hormone is important for normal brain development. The type 2 deiodinase (D2) controls thyroid hormone action in the brain by activating T4 to T3. The enzymatic activity of D2 depends on the incorporation of selenocysteine for which the selenocysteine-insertion sequence (SECIS) element located in the 3' untranslated region is indispensable. We hypothesized that mutations in the SECIS element could affect D2 function, resulting in a neurocognitive phenotype.

Published
2019
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16. Variation in the C-Reactive Protein Gene Is Associated with Serum Levels of CRP in Patients with Acute Ischemic Stroke

Author

Hertog, Heleen, Medici - van den Herik, Evita, Dippel, Diederik, Koudstaal, Peter, de Maat, Moniek, Hertog, Heleen, Medici - van den Herik, Evita, Dippel, Diederik, Koudstaal, Peter, and de Maat, Moniek

Abstract

Background and Purpose: Elevated levels of C-reactive protein (CRP) are found in up to three quarters of patients with acute ischemic stroke and are associated with poor outcome. We investigated whether haplotypes representing common variations in the CRP gene are associated with levels of CRP in patients with acute ischemic stroke. Methods: We included 185 patients with ischemic stroke in whom CRP was measured within 24 h of symptom onset. Common haplotypes within the CRP gene were determined by 3 genotype-tagging single-nucleotide polymorphisms (SNPs). Results: Four haplotypes with frequencies >5% covered 99.2% of the genetic variation. Haplotype 4 (CCG, frequency 8.3%) was associated with a 20.6 mg/l (95% CI, 9.8-30.4) stronger increase in CRP level as compared with haplotype 1 (CTC, frequency 33.7%). Conclusion: Variation in the CRP gene is associated with levels of CRP in acute ischemic stroke. Copyright (C) 2010 S. Karger AG, Basel

Published
2010

17. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.

Author

Ragamin A, Gomes CC, Bindels-de Heus K, Sandoval R, Bassenden AV, Dib L, Kok F, Alves J, Mathijssen I, Medici-Van den Herik E, Eveleigh R, Gayden T, Pullens B, Berghuis A, van Slegtenhorst M, Wilke M, Jabado N, Mancini GMS, and Gomez RS

Subjects
Female, Giant Cells, Humans, Jaw, Mutation genetics, Skull, TRPV Cation Channels chemistry, TRPV Cation Channels genetics, Channelopathies, Polyneuropathies, Transient Receptor Potential Channels genetics
Abstract

Background: Pathogenic germline variants in T ransient R eceptor P otential V anilloid 4 C ation C hannel ( TRPV4 ) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4 , at Met713., Methods: Here we report two unrelated women with a de novo germline p.Leu619Pro TRPV4 variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies., Results: From an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4 p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage., Conclusion: Our findings define a novel polysystemic syndrome due to germline TRPV4 p.Leu619Pro and further extend the spectrum of TRPV4 channelopathies. They further highlight the convergence of TRPV4 mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs., Competing Interests: Competing interests: RG and CCG are research fellows at the National Council for Scientific and Technological Development, Brazil., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.)

Published
2022
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