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Tess Holling

Explore the profile of Tess Holling including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 11
Citations 50
Followers 0
Related Specialties
Genetics
Neurology
Biochemistry
Top 10 Co-Authors
Kerstin Kutsche
Malik Alawi
Ebtesam Abdalla
Leonie von Elsner
Ibrahim M Abdelrazek
Dhanya Yesodharan
Sheela Nampoothiri
Thorsten Schinke
Pauline E Schneeberger
Thomas Muller
Published In
Hum Mutat
Brain
PLoS Genet
J Bone Miner Res
Int J Mol Sci
Affiliations
Soon will be listed here.
Recent Articles
1.
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Holling T, Abdelrazek I, Elhady G, Elmaksoud M, Ryu S, Abdalla E, et al.
J Hum Genet . 2024 Jul; 69(12):623-628. PMID: 39085459
VLDLR cerebellar hypoplasia is characterized by intellectual disability, non-progressive cerebellar ataxia, and seizures. The characteristic MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified...
2.
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting L, Holling T, Nishimura G, Ek J, Bak M, Ljungberg M, et al.
Clin Genet . 2024 May; 106(3):360-366. PMID: 38801004
Biallelic variants in PISD cause a phenotypic spectrum ranging from short stature with spondyloepimetaphyseal dysplasia (SEMD) to a multisystem disorder affecting eyes, ears, bones, and brain. PISD encodes the mitochondrial-localized...
3.
TMCO3, a Putative K :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans
Holling T, Brylka L, Scholz T, Bierhals T, Herget T, Meinecke P, et al.
J Bone Miner Res . 2023 Aug; 38(9):1334-1349. PMID: 37554015
Isolated short stature, defined as short stature without any other abnormalities, is a common heterogeneous condition in children. Exome sequencing identified the homozygous nonsense variant c.1832G>A/p.(Trp611*) in TMCO3 in two...
4.
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
Abdelrazek I, Holling T, Harms F, Alawi M, Omar T, Abdalla E, et al.
Eur J Med Genet . 2023 Jan; 66(3):104715. PMID: 36708876
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1; OMIM#213980) is a rare autosomal recessive disorder characterized by the clinical triad of developmental delay and/or intellectual disability, a typical...
5.
Clinically Relevant Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca Sensitivity of the Channel
Bauer C, Holling T, Horn D, Laco M, Abdalla E, Omar O, et al.
Int J Mol Sci . 2022 Sep; 23(17). PMID: 36077086
Dominant variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous missense variants, R116L and P369L, cause an allelic disorder characterized by pituitary hormone deficiency and maternally inherited gingival...
6.
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Holling T, Lisfeld J, Johannsen J, Matschke J, Song F, Altmeppen H, et al.
Hum Mutat . 2022 May; 43(9):1224-1233. PMID: 35510366
Nemaline myopathies (NEMs) are genetically and clinically heterogenous. Biallelic or monoallelic variants in TNNT1, encoding slow skeletal troponin T1 (TnT1), cause NEM. We report a 2-year-old patient and his mother...
7.
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
Dahimene S, von Elsner L, Holling T, Mattas L, Pickard J, Lessel D, et al.
Brain . 2022 Mar; 145(8):2721-2729. PMID: 35293990
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...
8.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
Holling T, Bhavani G, von Elsner L, Shah H, Kausthubham N, Bhattacharyya S, et al.
Hum Mutat . 2022 Mar; 43(5):625-642. PMID: 35266227
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 patients...
9.
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
Holling T, Nampoothiri S, Tarhan B, Schneeberger P, Vinayan K, Yesodharan D, et al.
Eur J Hum Genet . 2022 Jan; 30(4):439-449. PMID: 35013551
The sodium (Na):multivitamin transporter (SMVT), encoded by SLC5A6, belongs to the sodium:solute symporter family and is required for the Na-dependent uptake of biotin (vitamin B7), pantothenic acid (vitamin B5), the...
10.
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
Schneeberger P, Nampoothiri S, Holling T, Yesodharan D, Alawi M, Knisely A, et al.
Brain . 2021 May; 144(10):3036-3049. PMID: 34037727
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 three subunits VPS51,...