2024

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
CLIN GENET. 2024;106(3):360-366.

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, Abd Elmaksoud M, Ryu S, Abdalla E, Kutsche K
J HUM GENET. 2024;69(12):623-628.

2023

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, Kutsche K
EUR J MED GENET. 2023;66(3):104715.

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
J BONE MINER RES. 2023;38(9):1334-1349.

2022

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
Bauer C, Holling T, Horn D, Laço M, Abdalla E, Omar O, Alawi M, Kutsche K
INT J MOL SCI. 2022;23(17):.

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, Pilch K, Kadurin I, Pratt W, Zhulin I, Dai H, Hempel M, Ruzhnikov M, Kutsche K, Dolphin A
BRAIN. 2022;145(8):2721-2729.

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, Shukla A, Mortier G, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha K
HUM MUTAT. 2022;43(5):625-642.

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Holling T, Lisfeld J, Johannsen J, Matschke J, Song F, Altmeppen H, Kutsche K
HUM MUTAT. 2022;43(9):1224-1233.

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
Holling T, Nampoothiri S, Tarhan B, Schneeberger P, Vinayan K, Yesodharan D, Roy A, Radhakrishnan P, Alawi M, Rhodes L, Girisha K, Kang P, Kutsche K
EUR J HUM GENET. 2022;30(4):439-449.

2021

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
Schneeberger P, Nampoothiri S, Holling T, Yesodharan D, Alawi M, Knisely A, Müller T, Plecko B, Janecke A, Kutsche K
BRAIN. 2021;2021(awab206):.

2018

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Meyer Zum Büschenfelde U, Brandenstein L, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K
PLOS GENET. 2018;14(5):e1007370.

Letzte Aktualisierung aus dem FIS: 21.12.2024 - 03:49 Uhr