Almuth Caliebe
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View article: Comprehensive androgen-dependent transcriptome analysis in human genital tissue
Comprehensive androgen-dependent transcriptome analysis in human genital tissue Open
View article: Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis Open
View article: Comprehensive androgen-dependent transcriptome analysis in human genital tissue
Comprehensive androgen-dependent transcriptome analysis in human genital tissue Open
Background Androgen signalling through the androgen receptor (AR) is crucial for male genital development. Disruptions in this pathway are associated with androgen insensitivity syndrome (AIS), which is typically caused by mutations in the…
View article: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Open
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 5…
View article: LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome Open
Androgen insensitivity syndrome (AIS) is a difference of sex development (DSD) characterized by different degrees of undervirilization in individuals with a 46,XY karyotype despite normal to high gonadal testosterone production. Classicall…
View article: Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Open
View article: Formin-mediated nuclear actin assembly at androgen receptors promotes transcriptional droplet formation
Formin-mediated nuclear actin assembly at androgen receptors promotes transcriptional droplet formation Open
Steroid hormone receptors are ligand-binding transcription factors essential for mammalian physiology. The androgen receptor (AR) binds androgens mediating gene expression for sexual, somatic, and behavioral functions, and is involved in v…
View article: Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma
Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma Open
The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, r…
View article: Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease Open
[This corrects the article DOI: 10.1371/journal.pgen.1009679.].
View article: Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma
Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma Open
The recent characterization of a group of non-MYC rearranged aggressive B-cell lymphomas, resembling Burkitt lymphoma (BL), characteristically harboring a telomeric 11q loss or combined 11q proximal gains/loss pattern has led to the introd…
View article: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease Open
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we perf…
View article: Genome sequencing in families with congenital limb malformations
Genome sequencing in families with congenital limb malformations Open
View article: Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2 Open
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease caused by biallelic mutations in IDUA, the gene coding for the lysosomal enzyme alpha L-iduronidase. Clinically MPS I is a chronic progressive multisyst…
View article: A Giant Mammary Hamartoma in a Young Breast Cancer Patient
A Giant Mammary Hamartoma in a Young Breast Cancer Patient Open
Background: Hamartomas of the breast are rare benign tumors. Pre- and also postoperative differentiation from other benign or even malignant tumors is challenging. Case Presentation: A 36-year-old female present…
View article: Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness Open
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gle…
View article: The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer Open
View article: CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Open
View article: DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Open
View article: Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism
Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism Open
Context Molecular mechanisms causing the broad phenotypic diversity of external masculinization in individuals with 45,X/46,XY mosaicism are poorly understood. Objective Analysis of androgen receptor (AR) expression and function as a putat…
View article: Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification
Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification Open
This is a version of the Likelihood Ratio calculator tool created, adapted and/or used by ENIGMA analytical working group members, primarily David Goldgar, Kyriaki Michailidou, Paul James and Amanda Spurdle for use in calibrating data type…
View article: A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development Open
We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar phenotype in mice. C…
View article: Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer Open
View article: Additional file 17: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
Additional file 17: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Open
Table S4. Primers for qPCR. (XLSX 13 kb)
View article: Additional file 15: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
Additional file 15: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Open
Table S2. Methylation values of Infinium HumanMethylation450 BeadChip (450K) array analysis. (XLSX 235 kb)
View article: Additional file 16: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
Additional file 16: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Open
Table S3. Primers for bisulfite pyrosequencing. (XLSX 17 kb)
View article: Additional file 14: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
Additional file 14: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Open
Table S1. Phenotype data, sampling and analysis information. (XLSX 19 kb)
View article: Additional file 18: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
Additional file 18: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Open
Table S5. Methylation values of bisulfite pyrosequencing analysis. (XLSX 22 kb)
View article: Additional file 19: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
Additional file 19: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs Open
Table S6. Welch Two Sample t test comparing the methylation values from atrial and ventricular samples of the 16 candidate CpG loci. (XLSX 15 kb)
View article: Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Open
The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt. This has now been corrected in both the PDF and HTML versions of the Article.
View article: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Open