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Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Whole‐exome sequencing in three Iranian families identified two novel KCNJ10 variants (p.A118T, p.Y323H) associated with seizures, ataxia, developmental delay and hearing loss without renal involvement. ABSTRACT Background Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural ...
Shayan Shakeri, Sanaz Mohammadi, Forough Sadeghipour, Marjan Masoudi, Mona Entezam   +4 more
wiley   +1 more source

14-3-3ζ interacts with DNA-binding domain of FOXO3a and competitively dissociates DNA by dual-motif tethering. [PDF]

Nat Commun
Enomoto S, Kuwayama T, Nakatsuka S, Yokogawa M, Kawatsu K, Nakamura R, Kimura T, Tanabe M, Senda T, Saito J, Saya H, Osawa M.   +11 more
europepmc   +1 more source

Sediment surface sampling with giant box corer. In: Ratmeyer, V., Hebbeln, D & Shipboard Party: Report and Preliminary Results of RV Meteor Cruise M61/3 [PDF]

, 2006
Beck, T., Foubert, A., Grehan, A., Noé, Sibylle   +3 more
core  

Thoracic Ultrasound in Assessment of the Pleura in Connective Tissue Disease. [PDF]

Arch Rheumatol
Diktaş Tahtasakal S, Doğan C, Doğan C.   +2 more
europepmc   +1 more source

Distinct mechanisms of recognition of phosphorylated RNAPII C-terminal domain by BRCT repeats of the BRCA1-BARD1 complex. [PDF]

J Biol Chem
Klapstova V, Sedova K, Houser J, Sebesta M.   +3 more
europepmc   +1 more source

Drosophila Keap1 Proteins Assemble Nuclear Condensates in Response to Oxidative Stress. [PDF]

Antioxidants (Basel)
Ji G, Cross B, Killmer T, Enders B, Neidviecky E, Huber H, Lynch G, Deng H.   +7 more
europepmc   +1 more source

Mesostructured Water Enhances Stability of ProteinMPNN-Designed Ubiquitin-Fold Proteins. [PDF]

J Am Chem Soc
Chen LY, Lu WL, Pathania T, Chu IH, Ho MR, Chuang WC, Lou YC, Hung TI, Miyanoiri Y, Chang CA, Wu KP.   +10 more
europepmc   +1 more source

A unified knowledge graph linking foodomics to chemical-disease networks and flavor profiles. [PDF]

NPJ Sci Food
Li F, Youn J, Xie K, Chan T, Gupta P, Yoo A, Gunning M, Ni K, Tagkopoulos I.   +8 more
europepmc   +1 more source

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2022
Formålet er indsamling af hydrografiske forskningsdata.
openaire   +1 more source