Evren Gümüş

Spiramide and Hydroquinidine Inhibit Proliferation and Migration While Promoting Apoptosis and Oxidative Stress in Neuroblastoma Cells

Evren Gümüş, İlknur Keskin, Ezgi Yıldırım, Servet Kavak et autres

Neuroblastoma is an aggressive pediatric malignancy with limited therapeutic options for high-risk disease, underscoring the need for alternative treatment strategies. Drug repurposing offers a promising approach to accelerate the identification of effective anti-cancer agents. In this study, we investigated the anti-carcinogenic effects …

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BRCA1/2 Pathogenic Variants in a Turkish Cohort: Clinical Spectrum, Novel Truncating Variants, and Non-Canonical Cancers in the Aegean Region

Zehra Manav Yiğit, Nurdamla Sandal Filikci, Salih Burak Erarslan, Gökay Bozkurt et autres

Objective: To investigate the clinical and molecular spectrum of pathogenic and likely pathogenic BRCA1/2 variants in a regional cohort from the Aegean region of Türkiye, with particular emphasis on novel truncating variants and non-canonical cancer presentations.Methods: We retrospectively analysed clinical and genetic …

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Abstract 4366525: International JPH2 Registry: The Penetrance and Phenotypic Spectrum of JPH2 -mediated Cardiac Disease

Cindy Argueta Portillo, Haoran Jiang, Brittany Balint, Evren Gümüş et autres

Background: Variants in JPH2 -encoded junctophilin 2 have been associated with a range of cardiac diseases, including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmias, and sudden cardiac death. Despite these associations, due to its rarity, there is limited understanding of the penetrance and clinical …

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Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants

Zehra Manav Yiğit, Nurdamla Sandal Filikci, Erol Erkan, Gözde Şahin Vural et autres

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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner et autres

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Dataset related to article: "Congenital insensitivity to pain a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A"

Margherita Marchi, Ilaria D’Amato, Mirna Anđelić, Daniele Cartelli et autres

raw data related to article reported at title

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Dataset related to article: "Congenital insensitivity to pain a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A"

Margherita Marchi, Ilaria D’Amato, Mirna Anđelić, Daniele Cartelli et autres

raw data related to article reported at title

it (code pays fourni par la source)

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe, Alfonso Oyarzábal et autres

There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort …

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Back Cover, Volume 43, Issue 7

Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly et autres

Back Cover: The cover image is based on the Research Article Phenotypic and mutational spectrum of ROR2-related Robinow syndrome by Juliana Forte Mazzeu de Araujo et al., https://doi.org/10.1002/humu.24375.

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A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options

Ying Wang, Evren Gümüş, Siegfried Hekimi

Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency that frequently leads to severe mitochondrial disease syndrome. CoQ10 is …

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Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome

Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly et autres

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the …

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Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration

Geneva LaForce, Jordan S. Farr, Jingyi Liu, Cydni Akesson et autres

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