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View article: A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs Open
View article: KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response
KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response Open
Ectodermal dysplasia is a genetically and clinically heterogeneous condition that is caused by developmental defects of hair, teeth, nails, and certain glands. Biallelic KREMEN1 variants cause severe tooth agenesis and mild ectodermal feat…
View article: Assessment and treatment of osteoporosis in a patient with a neurodevelopmental disorder caused by a <i>RNU4-2</i> pathogenic variant (ReNU syndrome)
Assessment and treatment of osteoporosis in a patient with a neurodevelopmental disorder caused by a <i>RNU4-2</i> pathogenic variant (ReNU syndrome) Open
A 16-yr-old male with a genetically undiagnosed neurodevelopmental disorder (NDD) was admitted to our outpatient clinic for skeletal assessment. DXA and HR-pQCT showed a severely reduced BMD and a pronounced reduction of trabecular and cor…
View article: Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation Open
View article: Biallelic variants in the conserved ribosomal protein chaperone gene <i>PDCD2</i> are associated with hydrops fetalis and early pregnancy loss
Biallelic variants in the conserved ribosomal protein chaperone gene <i>PDCD2</i> are associated with hydrops fetalis and early pregnancy loss Open
Pregnancy loss is a major problem in clinical medicine with devastating consequences for families. Next generation sequencing has improved our ability to identify underlying molecular causes, though over half of all cases lack a clear etio…
View article: A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia Open
View article: Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel Open
Dominant KCNQ1 variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous KCNQ1 missense variants, R116L and P369L, cause an allelic disorder characterized by pituitary hormone deficiency and maternally inher…
View article: A homozygous hypomorphic<i>BNIP1</i>variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia
A homozygous hypomorphic<i>BNIP1</i>variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia Open
BNIP1 (BCL2 interacting protein 1) is a soluble N-ethylmaleimide-sensitive factor-attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patient…
View article: Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy
Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy Open
Voltage-gated calcium (CaV) channels form three subfamilies (CaV1–3). The CaV1 and CaV2 channels are heteromeric, consisting of an α1 pore-forming subunit, associated with auxiliary CaVβ and α2δ subunits. The α2δ subunits are encoded in ma…
View article: Biallelic variants in <i>VPS50</i> cause a neurodevelopmental disorder with neonatal cholestasis
Biallelic variants in <i>VPS50</i> cause a neurodevelopmental disorder with neonatal cholestasis Open
Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, respectively. GARP and EARP share the …
View article: RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1 Open
RIT1 belongs to the RAS family of small GTPases. Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively. By using heterologous expression systems and purified recombinant proteins, we iden…