Tatjana Bierhals
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Explore the profile of Tatjana Bierhals including associated specialties, affiliations and a list of published articles.
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49
Citations
679
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Recent Articles
1.
Ham H, Jing H, Lamborn I, Kober M, Koval A, Berchiche Y, et al.
Science
. 2024 Sep;
385(6715):eadd8947.
PMID: 39298586
Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in , which encodes G, a key component in heterotrimeric G...
2.
Polovitskaya M, Rana T, Ullrich K, Murko S, Bierhals T, Vogt G, et al.
J Biol Chem
. 2024 Jun;
300(7):107437.
PMID: 38838776
Together with its β-subunit OSTM1, ClC-7 performs 2Cl/H exchange across lysosomal membranes. Pathogenic variants in either gene cause lysosome-related pathologies, including osteopetrosis and lysosomal storage. CLCN7 variants can cause recessive...
3.
Worthmann A, Ridder J, Piel S, Evangelakos I, Musfeldt M, Voss H, et al.
Nat Commun
. 2024 Jan;
15(1):45.
PMID: 38167725
Dietary polyunsaturated fatty acids (PUFA) are increasingly recognized for their health benefits, whereas a high production of endogenous fatty acids - a process called de novo lipogenesis (DNL) - is...
4.
Papingi D, Bierhals T, Volk A, Kutsche M, Paul K, Herget T
Am J Med Genet A
. 2023 Dec;
194(5):e63515.
PMID: 38135897
Biallelic pathogenic variants in the TTC26 gene are known to cause BRENS (biliary, renal, neurological, skeletal) syndrome, an ultra-rare autosomal recessive condition with only few patients published to date. BRENS...
5.
Rinaldi B, Bayat A, Zachariassen L, Sun J, Ge Y, Zhao D, et al.
Brain
. 2023 Dec;
147(5):1837-1855.
PMID: 38038360
AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only...
6.
Mah-Som A, Daw J, Huynh D, Wu M, Creekmore B, Burns W, et al.
Am J Hum Genet
. 2023 Oct;
110(11):1959-1975.
PMID: 37883978
Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), which manifests...
7.
Harms F, Dingemans A, Hempel M, Pfundt R, Bierhals T, Casar C, et al.
Genet Med
. 2023 Sep;
25(11):100964.
PMID: 37728613
No abstract available.
8.
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, et al.
Mol Genet Metab
. 2023 Aug;
140(3):107675.
PMID: 37572574
Recessive variants in NDUFAF3 are a known cause of complex I (CI)-related mitochondrial disorders (MDs). The seven patients reported to date exhibited severe neurologic symptoms and lactic acidosis, followed by...
9.
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...
10.
Harms F, Dingemans A, Hempel M, Pfundt R, Bierhals T, Casar C, et al.
Genet Med
. 2023 Jul;
25(10):100927.
PMID: 37422718
Purpose: The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A. Methods: Clinical, genomic, and functional studies using...