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Your search keyword '"Radefeldt, Mandy"' showing total 14 results
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14 results on '"Radefeldt, Mandy"'

1. A founder DBR1 variant causes a lethal form of congenital ichthyosis

Author

Shamseldin, Hanan E., Sadagopan, Mukunth, Martini, Javier, Al-Ali, Ruslan, Radefeldt, Mandy, Ataei, Mojgan, Lemke, Sabrina, Rahbeeni, Zuhair, Al Mutairi, Fuad, Ababneh, Faroug, AlRukban, Hadeel A., Abdulwahab, Firdous, Alhajj, Saleh Mohammed, Bauer, Peter, Bertoli-Avella, Aida, and Alkuraya, Fowzan S.

Published
2023
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2. Genetic and Epidemiological Insights into RAB32‐Linked Parkinson's Disease.

Author

Radefeldt, Mandy, Lemke, Sabrina, Chaichoompu, Kridsadakorn, Paul, Jefri Jeya, Curado, Filipa, Valzania, Franco, Cavallieri, Francesco, Fioravanti, Valentina, Valente, Enza Maria, Avenali, Micol, Negrotti, Anna, Hanagasi, Hasmet A., Thonke, Sven, Matarazzo, Michele, Panzavolta, Andrea, Cerami, Chiara, Westenberger, Ana, Klein, Christine, Bauer, Peter, and Beetz, Christian

Subjects
*PARKINSON'S disease, *MOVEMENT disorders, *HAPLOTYPES, *NUCLEOTIDE sequencing, *DATABASES
Abstract

Background Objective Methods Results Conclusions The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.We queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg‐associated haplotypes were constructed.p.Ser71Arg was present in 11 PD patients (73% from northern Italy) and in 35 individuals (89% from the Middle East and North Africa [MENA]) aged <50 years without PD‐relevant symptoms. It was found in‐cis to a set of proximal single‐nucleotide polymorphisms. Additional RAB32 variants were comparably frequent in PD and non‐PD individuals.The RAB32 p.Ser71Arg variant defines a cluster of PD patients in northern Italy. Globally, it is most prevalent in MENA. Our data indicate that p.Ser71Arg causes PD and that it occurred only once, through a founder event. Other RAB32 variants are unlikely to cause PD. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Inhibitory Response to CK II Inhibitor Silmitasertib and CDKs Inhibitor Dinaciclib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines

Author

Ma, Yixuan, primary, Sender, Sina, additional, Sekora, Anett, additional, Kong, Weibo, additional, Bauer, Peter, additional, Ameziane, Najim, additional, Krake, Susann, additional, Radefeldt, Mandy, additional, Al-Ali, Ruslan, additional, Weiss, Frank Ulrich, additional, Lerch, Markus M., additional, Parveen, Alisha, additional, Zechner, Dietmar, additional, Junghanss, Christian, additional, and Murua Escobar, Hugo, additional

Published
2022
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7. The Inhibitory Response to PI3K/AKT Pathway Inhibitors MK-2206 and Buparlisib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines

Author

Ma, Yixuan, primary, Sender, Sina, additional, Sekora, Anett, additional, Kong, Weibo, additional, Bauer, Peter, additional, Ameziane, Najim, additional, Al-Ali, Ruslan, additional, Krake, Susann, additional, Radefeldt, Mandy, additional, Weiss, Frank Ulrich, additional, Lerch, Markus M., additional, Parveen, Alisha, additional, Zechner, Dietmar, additional, Junghanss, Christian, additional, and Murua Escobar, Hugo, additional

Published
2022
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8. A homozygous frame‐shift variant inPROSER1is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

Author

Salah, Azza, primary, Almannai, Mohammed, additional, Al Ojaimi, Mode, additional, Radefeldt, Mandy, additional, Gulati, Nishtha, additional, Iqbal, Maria, additional, Alawbathani, Salem, additional, Al‐Ali, Ruslan, additional, Beetz, Christian, additional, and El‐Hattab, Ayman W., additional

Published
2022
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9. A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

Author

Bertoli-Avella, Aida, primary, Hotakainen, Ronja, additional, Al Shehhi, Maryam, additional, Urzi, Alice, additional, Pareira, Catarina, additional, Marais, Anett, additional, Al Shidhani, Khoula, additional, Aloraimi, Sumaya, additional, Morales-Torres, Galina, additional, Fisher, Steffen, additional, Demuth, Laura, additional, Moteleb Selim, Laila Abdel, additional, Al Menabawy, Nihal, additional, Busehail, Maryam, additional, AlShaikh, Mohammed, additional, Gilani, Naser, additional, Chalabi, Dler Nooruldeen, additional, Alharbi, Nasser S, additional, Alfadhel, Majid, additional, Abdelrahman, Mohammed, additional, Venselaar, Hanka, additional, Anjum, Nadeem, additional, Saeed, Anjum, additional, Alghamdi, Malak Ali, additional, Aljaedi, Hamad, additional, Arabi, Hisham, additional, Karageorgou, Vasiliki, additional, Khan, Suliman, additional, Hajjari, Zahra, additional, Radefeldt, Mandy, additional, Al-Ali, Ruslan, additional, Tripolszki, Kornelia, additional, Jamhawi, Amer, additional, Paknia, Omid, additional, Cozma, Claudia, additional, Cheema, Huma, additional, Ameziane, Najim, additional, Al-Muhsen, Saleh, additional, and Bauer, Peter, additional

Published
2021
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11. The HROC-Xenobank—A High Quality Assured PDX Biobank of >100 Individual Colorectal Cancer Models

Author

Matschos, Stephanie, primary, Bürtin, Florian, additional, Kdimati, Said, additional, Radefeldt, Mandy, additional, Krake, Susann, additional, Prall, Friedrich, additional, Engel, Nadja, additional, Krohn, Mathias, additional, Micheel, Bianca, additional, Kreutzer, Michael, additional, Mullins, Christina Susanne, additional, and Linnebacher, Michael, additional

Published
2021
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12. A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.

Author

Salah, Azza, Almannai, Mohammed, Ojaimi, Mode Al, Radefeldt, Mandy, Gulati, Nishtha, Iqbal, Maria, Alawbathani, Salem, Al-Ali, Ruslan, Beetz, Christian, and El-Hattab, Ayman W.

Subjects
DEVELOPMENTAL delay, DNA demethylation, HISTONE methyltransferases, EYEBROWS, GENETIC regulation, HEARING disorders, EAR
Abstract

We report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations. They also shared common facial features including arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing. Exome sequencing for affected individuals revealed a homozygous frame-shift variant, c.1833del; p. (Thr612Glnfs*22), in PROSER1 which encodes the proline and serine rich protein 1 (PROSER1). PROSER1 has recently been found to be part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancerassociated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation, consistent with the wide phenotypic spectrum observed in the individuals presented here. The consistent phenotype, the loss-of-function predicted from the frame-shift, the co-segregation of the phenotype in our large pedigree, the vital role of PROSER1 in gene regulation, and the association of related genes with neurodevelopmental disorders argue for the loss of PROSER1 to be the cause for a novel recognizable syndrome. [ABSTRACT FROM AUTHOR]

Published
2022
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13. Rapid Large-Scale COVID-19 Testing during Shortages

Author

Beetz, Christian, primary, Skrahina, Volha, additional, Förster, Toni M., additional, Gaber, Hanaa, additional, Paul, Jefri J., additional, Curado, Filipa, additional, Rolfs, Arndt, additional, Bauer, Peter, additional, Schäfer, Stephan, additional, Weckesser, Volkmar, additional, Lieu, Vivi, additional, Radefeldt, Mandy, additional, Pöppel, Claudia, additional, Krake, Susann, additional, Kandaswamy, Krishna K., additional, Bruesehafer, Katja, additional, and Vogel, Florian, additional

Published
2020
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14. A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2gene

Author

Bertoli-Avella, Aida, Hotakainen, Ronja, Al Shehhi, Maryam, Urzi, Alice, Pareira, Catarina, Marais, Anett, Al Shidhani, Khoula, Aloraimi, Sumaya, Morales-Torres, Galina, Fisher, Steffen, Demuth, Laura, Moteleb Selim, Laila Abdel, Al Menabawy, Nihal, Busehail, Maryam, AlShaikh, Mohammed, Gilani, Naser, Chalabi, Dler Nooruldeen, Alharbi, Nasser S, Alfadhel, Majid, Abdelrahman, Mohammed, Venselaar, Hanka, Anjum, Nadeem, Saeed, Anjum, Alghamdi, Malak Ali, Aljaedi, Hamad, Arabi, Hisham, Karageorgou, Vasiliki, Khan, Suliman, Hajjari, Zahra, Radefeldt, Mandy, Al-Ali, Ruslan, Tripolszki, Kornelia, Jamhawi, Amer, Paknia, Omid, Cozma, Claudia, Cheema, Huma, Ameziane, Najim, Al-Muhsen, Saleh, and Bauer, Peter

Abstract

PurposeWe sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.MethodsExome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.ResultsWe identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. We confirmed aberrant AGR2transcripts caused by an intronic variant and complete absence of AGR2transcripts caused by the large gene deletion, resulting in loss of function (LoF). Furthermore, transcriptome analysis identified significant downregulation of components of the mucociliary machinery (intraciliary transport, cilium organisation), as well as upregulation of immune processes.ConclusionWe describe a previously unrecognised autosomal recessive disorder caused by AGR2variants. AGR2-related disease should be considered as a differential diagnosis in patients presenting a CF-like phenotype. This has implications for the molecular diagnosis and management of these patients. AGR2 LoF is likely the disease mechanism, with consequent impairment of the mucociliary defence machinery. Future studies should aim to establish a better understanding of the disease pathophysiology and to identify potential drug targets.

Published
2022
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