Holling T - Search Results

1

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Holling T, Lisfeld J, Johannsen J, Matschke J, Song F, Altmeppen HC, Kutsche K. Holling T, et al. Hum Mutat. 2022 Sep;43(9):1224-1233. doi: 10.1002/humu.24397. Epub 2022 May 11. Hum Mutat. 2022. PMID: 35510366

2

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

Meyer Zum Büschenfelde U, Brandenstein LI, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K. Meyer Zum Büschenfelde U, et al. Among authors: holling t. PLoS Genet. 2018 May 7;14(5):e1007370. doi: 10.1371/journal.pgen.1007370. eCollection 2018 May. PLoS Genet. 2018. PMID: 29734338 Free PMC article.

3

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Schneeberger PE, Nampoothiri S, Holling T, Yesodharan D, Alawi M, Knisely AS, Müller T, Plecko B, Janecke AR, Kutsche K. Schneeberger PE, et al. Among authors: holling t. Brain. 2021 Nov 29;144(10):3036-3049. doi: 10.1093/brain/awab206. Brain. 2021. PMID: 34037727

4

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.

Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, Roy AG, Radhakrishnan P, Alawi M, Rhodes L, Girisha KM, Kang PB, Kutsche K. Holling T, et al. Eur J Hum Genet. 2022 Apr;30(4):439-449. doi: 10.1038/s41431-021-01033-2. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35013551 Free PMC article.

5

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.

Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM. Holling T, et al. Hum Mutat. 2022 May;43(5):625-642. doi: 10.1002/humu.24368. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266227

6

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Dahimene S, von Elsner L, Holling T, Mattas LS, Pickard J, Lessel D, Pilch KS, Kadurin I, Pratt WS, Zhulin IB, Dai H, Hempel M, Ruzhnikov MRZ, Kutsche K, Dolphin AC. Dahimene S, et al. Among authors: holling t. Brain. 2022 Aug 27;145(8):2721-2729. doi: 10.1093/brain/awac081. Brain. 2022. PMID: 35293990 Free PMC article.

7

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca²⁺ Sensitivity of the Channel.

Bauer CK, Holling T, Horn D, Laço MN, Abdalla E, Omar OM, Alawi M, Kutsche K. Bauer CK, et al. Among authors: holling t. Int J Mol Sci. 2022 Aug 26;23(17):9690. doi: 10.3390/ijms23179690. Int J Mol Sci. 2022. PMID: 36077086 Free PMC article.

8

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 IM, Holling T, Harms FL, Alawi M, Omar T, Abdalla E, Kutsche K. Abdelrazek IM, et al. Among authors: holling t. Eur J Med Genet. 2023 Mar;66(3):104715. doi: 10.1016/j.ejmg.2023.104715. Epub 2023 Jan 25. Eur J Med Genet. 2023. PMID: 36708876 Review.

9

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, Schinke T, Oheim R, Kutsche K. Holling T, et al. J Bone Miner Res. 2023 Sep;38(9):1334-1349. doi: 10.1002/jbmr.4827. Epub 2023 Aug 9. J Bone Miner Res. 2023. PMID: 37554015 Free article.

10

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, Kutsche K, Hove H. Aagaard Nolting L, et al. Among authors: holling t. Clin Genet. 2024 Sep;106(3):360-366. doi: 10.1111/cge.14549. Epub 2024 May 27. Clin Genet. 2024. PMID: 38801004

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