Birgit Stallmeyer
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View article: Genotype-specific differences in infertile men due to loss-of-function variants in<i>M1AP</i>or<i>ZZS</i>genes
Genotype-specific differences in infertile men due to loss-of-function variants in<i>M1AP</i>or<i>ZZS</i>genes Open
Male infertility and meiotic arrest have been linked to M1AP , the gene encoding meiosis I associated protein. In mice, M1AP interacts with the ZZS proteins SHOC1, TEX11, and SPO16, which promote DNA class I crossover formation during meio…
View article: Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation
Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation Open
The infertility of many couples rests on an enigmatic dysfunction of the man's sperm. To gain insight into the underlying pathomechanisms, we assessed the function of the sperm-specific multisubunit CatSper-channel complex in the sperm of …
View article: O-017 A novel diagnostic test identifies patients suffering from loss of CatSper function
O-017 A novel diagnostic test identifies patients suffering from loss of CatSper function Open
Study question Is a loss of CatSper function in sperm a common cause of unexplained male infertility? Summary answer Loss of CatSper function leads to similar infertility phenotypes in mice and men and represents one of the most common cau…
View article: Bi-allelic variants in<i>INSL3</i>and<i>RXFP2</i>cause bilateral cryptorchidism and male infertility
Bi-allelic variants in<i>INSL3</i>and<i>RXFP2</i>cause bilateral cryptorchidism and male infertility Open
STUDY QUESTION What is the impact of variants in the genes INSL3 (Insulin Like 3) and RXFP2 (Relaxin Family Peptide Receptor 2), respectively, on cryptorchidism and male infertility? SUMMARY ANSWER Bi-allelic loss-of-function (LoF) variant…
View article: DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia
DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia Open
Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-establish…
View article: Unexplained infertility is frequently caused by defective CatSper function preventing sperm from penetrating the egg coat
Unexplained infertility is frequently caused by defective CatSper function preventing sperm from penetrating the egg coat Open
The infertility of many couples seems to rest on an enigmatic dysfunction of the men’s sperm, rendering early diagnosis and evidence-based treatment by medically assisted reproduction impossible. Using a novel laboratory test, we assessed …
View article: Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy Open
Cav1.3 voltage-gated L-type calcium channels (LTCCs) are involved in cardiac pacemaking, hearing and hormone secretion, but are also expressed postsynaptically in neurons. So far, homozygous loss of function mutations in CACNA1D encoding t…
View article: New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation Open
Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, the authors present a syndromal form of short QT syndrome in a 34-year-old German male patient with extracardiac features with predominant psychi…
View article: Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo Open
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal proteins. Origin of these variants, including de novo mutation rate…
View article: Cardiac α-Actin ( <i>ACTC1</i> ) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy
Cardiac α-Actin ( <i>ACTC1</i> ) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy Open
Background: Familial atrial septal defect (ASD) has previously been attributed primarily to mutations in cardiac transcription factors. Here, we report a large, multi-generational family (78 members) with ASD combined with a late-onset dil…
View article: Familial Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K <sup>+</sup> Channel) Channel Function
Familial Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K <sup>+</sup> Channel) Channel Function Open
Background: Inherited forms of sinus node dysfunction (SND) clinically include bradycardia, sinus arrest, and chronotropic incompetence and may serve as disease models to understand sinus node physiology and impulse generation. Recently, a…
View article: A Mutation in the G-Protein Gene <i>GNB2</i> Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction
A Mutation in the G-Protein Gene <i>GNB2</i> Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction Open
Rationale: Familial sinus node and atrioventricular conduction dysfunction is a rare disorder that leads to paroxysmal dizziness, fatigue, and syncope because of a temporarily or permanently reduced heart rate. To date, only a few genes fo…
View article: T<sub>peak</sub>–T<sub>end</sub>interval and T<sub>peak</sub>–T<sub>end</sub>/QT ratio in patients with Brugada syndrome
T<sub>peak</sub>–T<sub>end</sub>interval and T<sub>peak</sub>–T<sub>end</sub>/QT ratio in patients with Brugada syndrome Open
Assessment of the TpTe interval or the TpTe/QT ratio in lead V1 is potentially useful as a non-invasive risk marker for BrS patients with life-threatening arrhythmias.