Explanipedia

Uncoupling of CSF biomarkers and clinical status in patients with a novel mutation of ATP13a2 Open

Caspar Stephani, David Ewers, Daniela Stausberg, David A Rasche, Alireza Bahiraee , et al. · 2025

Summary Cerebrospinal fluid (CSF) biomarkers are generally assumed to reflect the severity and progression of neurodegenerative disease. We report three siblings carrying a novel heterozygous ATP13A2 variant (p.Pro629Ser) who challenge thi…

Is CABP2 ‐Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry Open

Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tina Pangršič, Tobias Moser · 2025

CABP2 modulates presynaptic Ca V 1.3 Ca 2+ channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in CABP2 are associated with non‐syndromic hearing loss (DFNB93). Otoacous…

BTRR complex deficiency is a driver for genomic instability in Bloom syndrome Open

Ipek Ilgin Gönenç, Alexander Wolff, Alexandra Viktoria Busley, Angela Wieland, Andréa E. Tijhuis , et al. · 2025

Biallelic loss-of-function (LoF) variants in the BTRR complex members BLM , TOP3A, RMI1, and RMI2 cause Bloom syndrome (BS). The BTRR complex mainly acts on DNA replication and DNA repair processes, and dysfunction of this complex underlie…

Understanding inherited cardiomyopathies: clinical aspects and genetic determinants Open

Gökhan Yigit, Silke Kaulfuß, Bernd Wollnik · 2025

Cardiomyopathies (CMs) are a clinically heterogeneous group of cardiovascular diseases characterized by structural and functional abnormalities of the heart muscle in the absence of coronary artery disease, hypertension, valve disease, or …

The role of genetics in inherited cardiac diseases Open

Gudrun Rappold, Bernd Wollnik · 2025

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches Open

Silvestre Cuinat, Nicolas Chatron, Florence Petit, Perrine Brunelle, Etienne Dincuff , et al. · 2025

The non-homologous end joining (NHEJ) pathway is essential to repair DNA double-strand breaks. XRCC4 acts as a stabilizer of the DNA ligase LIG4 in the NHEJ process. In humans, XRCC4 pathogenic variants are responsible for a microcephalic …

Author Correction: Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening Open

Anand Ramani, Giovanni Pasquini, Niklas J. Gerkau, Vaibhav Jadhav, Omkar Suhas Vinchure , et al. · 2025

Engineered heart muscle allografts for heart repair in primates and humans Open

Ahmad-Fawad Jebran, Tim Seidler, Malte Tiburcy, Maria Anastasia Daskalaki, Ingo Kutschka , et al. · 2025

Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis Open

Edip Ünal, Aysel Tekmenuray‐Unal, Atilla Çayır, Esra Deniz Papatya Çakır, Nurcan Beyazıt , et al. · 2025

Context Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regardin…

Genomic and biological panoramas of non-muscle actinopathies Open

Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N. Greve, Marcus Kropp , et al. · 2024

Background Cytoskeletal non-muscle actin isoforms are the most abundant intracellular proteins and extensively interact with other molecules. Biological consequences and genotype-phenotype correlations of the variants in genes encoding the…

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Open

Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David Parry , et al. · 2024

3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes Open

Tatiana Pochechueva, Niko Schwenzer, Tobias Kohl, Sören Brandenburg, Gesa Kaltenecker , et al. · 2024

We present novel workflows for Q-FISH nanoscopy with the potential for prognostic applications and resolving novel chromatin compaction changes. DNA-fluorescence in situ hybridization (DNA-FISH) is a routine application to visualize telome…

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings Open

İrem Kalay, Hüseyin Aykut, Zuhal Çalışkan, Gökhan Yigit, Bernd Wollnik · 2023

Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals with LPI show extreme variability in their clinical…

An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies Open

Marie C. Hasselluhn, Denise Schlösser, Lennart Versemann, G. Schmídt, Maria Ulisse , et al. · 2023

Our results suggest that PDAC characterized by SMAD4 deficiency and oncogenic NFATc1/SMAD3/cJUN complex formation exposes sensitivity to a mitogen-activated protein kinase signaling inhibition and gemcitabine combination therapy.

Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion, and drug screening Open

Anand Ramani, Giovanni Pasquini, Niklas J. Gerkau, Omkar Suhas Vinchure, Elke Gabriel , et al. · 2023

SUMMARY Brain organoids offer unprecedented insights into brain development and disease modeling and hold promise for drug screening. Significant hindrances, however, are morphological and cellular heterogeneity, inter-organoid size differ…

N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobody Open

Arne Zibat, Xiaoxiao Zhang, Antje Dickmanns, Kim M. Stegmann, Adrian W. Dobbelstein , et al. · 2023

N4-hydroxycytidine (NHC), the active compound of the drug Molnupiravir, is incorporated into SARS-CoV-2 RNA, causing false base pairing. The desired result is an "error catastrophe," but this bears the risk of mutated virus progeny. To add…

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Open

Long Guo, Smrithi Salian, Jingyi Xue, Nicola Rath, Justine Rousseau , et al. · 2023

LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome Open

Alexandra Viktoria Busley, Óscar Gutiérrez‐Gutiérrez, Elke Hammer, Fabian Koitka, Amin Mirzaiebadizi , et al. · 2023

Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset hypertrophic cardiomyopathy. However, the underling disease mechanisms of LZTR1 missense variants driving the cardiac…

Reliability of High-Quantity Human Brain Organoids for Modeling Microcephaly, Glioma Invasion, and Drug Screening Open

Anand Ramani, Giovanni Pasquini, Niklas J. Gerkau, Nazlican Altinisk, Omkar Suhas Vinchure , et al. · 2023

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita Open

Franziska Schnabel, Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe , et al. · 2022

Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular …

Systematic multigene panel studies in hereditary hearing loss diagnose complex inheritance patterns involving multiple genes Open

Virginia Dyett, Christoph Braunwarth, Hendrik Rosewich, Alexandr Kuranov, Silke Kaulfuß , et al. · 2022

Two sisters with rapid-onset dystonia-parkinsonism syndrome (RDP) were referred to us from paediatrics for hearing assessment. RDP is a rare autosomal dominant neurological disorder with episodes of dystonia, bradykinesia, and postural ins…

Systematische Multigen-Panel-Untersuchungen bei erblicher Schwerhörigkeit diagnostizieren komplexe Vererbungsmuster mit Beteiligung mehrerer Gene Open

Virginia Dyett, Christoph Braunwarth, Hendrik Rosewich, Alexandr Kuranov, Silke Kaulfuß , et al. · 2022

Die Kinderklinik stellte uns konsiliarisch zwei Schwestern mit Rapid-onset Dystonia-Parkinsonism-Syndrom (RDP) vor. RDP ist ein sehr seltenes, autosomal dominant vererbtes neurologisches Krankheitsbild mit Episoden von Dystonie, Bradykines…

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease Open

Orr Shomroni, Maren Sitte, Julia Schmidt, Sabnam Parbin, Fabian Ludewig , et al. · 2022

Single cell multi-omics analysis has the potential to yield a comprehensive understanding of the cellular events that underlie the basis of human diseases. The cardinal feature to access this information is the technology used for single-c…

Phenotypic spectrum of BLM ‐ and RMI1 ‐related Bloom syndrome Open

Ipek Ilgin Gönenç, Nursel Elçioğlu, Carolina Martínez Grijalva, Seda Aras, Nadine Großmann , et al. · 2022

Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of ei…

GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION Open

Çağrı Güleç, Ayça Dilruba Aslanger, Volkan Karaman, Bernd Wollnik, Fatih Tepgeç , et al. · 2022

Objective: hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the gene…

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures Open

Ipek Ilgin Gönenç, Alexander Wolff, Julia Schmidt, Arne Zibat, Christian Müller , et al. · 2022

Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency and predisposition to cancer. It is mainly caused by biallelic loss-of-function mutations in the BL…

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features Open

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Serene C. Chng , et al. · 2022

Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer Open

Reger R. Mikaeel, Joanne Young, Yun Li, Eric Smith, Mehgan Horsnell , et al. · 2021

Colorectal cancer (CRC) incidence in young adults is rising. Identifying genetic risk factors is fundamental for the clinical management of patients and their families. This study aimed to identify clinically significant germline variants …

Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome Open

Ipek Ilgin Gönenç, Nursel Elçioğlu, Carolina Martínez Grijalva, Seda Aras, Nadine Großmann , et al. · 2021

Bloom syndrome (BS) is an autosomal recessive disease with characteristic clinical features of primary microcephaly, growth deficiency, skin lesions, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular f…

A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease Open

Orr Shomroni, Maren Sitte, Julia Schmidt, Sabnam Parbin, Fabian Ludewig , et al. · 2021

Advances in single cell multi-omics analysis such as the ability of a genotype to show phenotypic diversity lead to a comprehensive understanding of cellular events in human diseases. The cardinal feature to access this information is the …

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