Frederike L. Harms
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View article: A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements
A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements Open
Congenital mirror movements (CMMs) are involuntary movements of one side of the body that mirror intentional movements of the opposite side. DCC, NTN1, RAD51, ARHGEF7, and DNAL4 have been associated with CMMs. Two-thirds of CMM-affected in…
View article: Genotype–Phenotype Correlation in <scp> <i>TTC7A</i> </scp> ‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1
Genotype–Phenotype Correlation in <span> <i>TTC7A</i> </span> ‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1 Open
Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A . GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammator…
View article: KCNH3 Loss-of-Function Variant Associated with Epilepsy and Neurodevelopmental Delay Enhances Kv12.2 Channel Inactivation
KCNH3 Loss-of-Function Variant Associated with Epilepsy and Neurodevelopmental Delay Enhances Kv12.2 Channel Inactivation Open
A de novo missense variant in KCNH3 has been identified in a patient with neurological symptoms including seizures. Here, we confirm the previously reported loss-of-function features for the associated Kv12.2 mutant A371V and investigate t…
View article: Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes Open
Biallelic variants in COL25A1 have been associated with isolated congenital cranial dysinnervation disorders (CCDDs) and arthrogryposis multiplex congenital (AMC) with or without CCDD. COL25A1 encodes collagen XXV that belongs to the subfa…
View article: Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures
Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures Open
Our results propose KCNH3, which is primarily expressed in the nervous system, as a new disease gene associated with a neurodevelopmental phenotype including seizures.
View article: Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome Open
View article: Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth Open
View article: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias Open
View article: Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency Open
Germline hemizygous loss-of-function mutations affecting the actin regulator DOCK11 were shown to cause a previously unknown inborn error of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation,…
View article: BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients Open
View article: Erratum zu: Klimawandel und Kindergesundheit – Ein Aufruf zum Handeln
Erratum zu: Klimawandel und Kindergesundheit – Ein Aufruf zum Handeln Open
View article: Klimawandel und Kindergesundheit – Ein Aufruf zum Handeln
Klimawandel und Kindergesundheit – Ein Aufruf zum Handeln Open
Zusammenfassung Der Klimawandel ist eine stille Krise und die größte Bedrohung unserer Zeit. Hitze, Extremwetterereignisse und Luftverschmutzung haben besondere Auswirkungen auf Frühgeburtlichkeit, akute und chronische Atemwegserkrankungen…
View article: Biallelic <i>FRA10AC1</i> variants cause a neurodevelopmental disorder with growth retardation
Biallelic <i>FRA10AC1</i> variants cause a neurodevelopmental disorder with growth retardation Open
The major spliceosome mediates pre-mRNA splicing by recognizing the highly conserved sequences at the 5′ and 3′ splice sites and the branch point. More than 150 proteins participate in the splicing process and are organized in the spliceos…
View article: Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus Open
View article: Functional analysis of CASK transcript variants expressed in human brain
Functional analysis of CASK transcript variants expressed in human brain Open
The calcium-/calmodulin dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinases (MAGUK) family of proteins. It fulfils several different cellular functions, ranging from acting as a scaffold protein to t…
View article: MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency Open
View article: A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration Open
View article: Biallelic loss‐of‐function variants in <i>TBC1D2B</i> cause a neurodevelopmental disorder with seizures and gingival overgrowth
Biallelic loss‐of‐function variants in <i>TBC1D2B</i> cause a neurodevelopmental disorder with seizures and gingival overgrowth Open
The family of Tre2‐Bub2‐Cdc16 (TBC)‐domain containing GTPase activating proteins (RABGAPs) is not only known as key regulatorof RAB GTPase activity but also has GAP‐independent functions. Rab GTPases are implicated in membrane trafficking …
View article: Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia
Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia Open
View article: Combined in vitro and in silico analyses of missense mutations in <i>GNPTAB</i> provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
Combined in vitro and in silico analyses of missense mutations in <i>GNPTAB</i> provide new insights into the molecular bases of mucolipidosis II and III alpha/beta Open
Mucolipidosis (ML) II and III alpha/beta are inherited lysosomal storage disorders caused by mutations in GNPTAB encoding the α/β-precursor of GlcNAc-1-phosphotransferase. This enzyme catalyzes the initial step in the modification of more …
View article: Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder Open
View article: Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation Open
Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and disassembly of protein complexes and aggregates.ATAD1 encoding the ATPase family, AAA+ domain containing 1-protein Thorase plays an important role in …
View article: A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy Open
\nATAD1 encodes Thorase, an AAA+ ATPase that helps control postsynaptic AMPA receptor internalisation. Piard et al. report three siblings with lethal encephalopathy associated with stiffness and arthrogryposis caused by a homozygous activa…
View article: The novel <i>RAF1</i> mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
The novel <i>RAF1</i> mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor Open
Noonan syndrome is characterized by typical craniofacial dysmorphism, postnatal growth retardation, congenital heart defect, and learning difficulties and belongs to the RASopathies, a group of neurodevelopmental disorders caused by germli…
View article: Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy Open
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delinea…
View article: Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Open
View article: Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4
Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4 Open
Significance Endocytic receptors regulate the internalization of extracellular antigens and are often targeted to induce a potent immune response (e.g., tumor vaccinations), albeit with limited success. Here, we describe a role of an endoc…
View article: Mutations in<i>EBF3</i>disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
Mutations in<i>EBF3</i>disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism Open
From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3 , encoding a transcription factor required for neuronal …
View article: αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor Open
Endosomal sorting is an essential control mechanism for signaling through the epidermal growth factor receptor (EGFR). We report here that the guanine nucleotide exchange factor αPIX, which modulates the activity of Rho-GTPases, is a poten…