Results 151 to 160 of about 117,595 (294)

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

open access: yesClinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic   +3 more
wiley   +1 more source

Metabolic Dysfunction-Associated Steatotic Liver Disease and Emerging Oligonucleotide Therapies. [PDF]

open access: yesInt J Biol Sci
Chen Q   +8 more
europepmc   +1 more source

Phosphatase PPP1CC Regulates the First Lineage Segregation by GAS5 in Mouse Preimplantation Embryos

open access: yesCell Proliferation, EarlyView.
Subcortical GAS5 directs PPP1CC phosphatase spatiotemporal positioning during mouse morula‐blastocyst transition, controlling YAP dephosphorylation to drive first embryonic lineage specification. ABSTRACT The transcriptional effector of the Hippo signalling pathway, YAP, regulates the first lineage specification in mouse preimplantation embryos ...
Jianwu Wang   +10 more
wiley   +1 more source

Anticancer LNA Oligonucleotides Detection through a Simple Paper-Based Platform. [PDF]

open access: yesACS Meas Sci Au
Raucci A   +7 more
europepmc   +1 more source

Clinical‐Grade Human Induced Pluripotent Stem Cell‐Derived Neural Precursor Cells Restore Motor Function and Preserve Striatal Integrity in a Quinolinic Acid‐Lesioned Rat Model of Huntington's Disease

open access: yesCell Proliferation, EarlyView.
Clinical‐grade HLA‐homozygous iPSC‐derived neural precursor cells restore motor function, rebuild striatal circuitry and reduce neuroinflammation in QA‐lesioned rats. These findings demonstrate robust neuronal replacement and microenvironment modulation, supporting their potential as a regenerative therapy for Huntington's disease.
Hyeonjoong Jeon   +6 more
wiley   +1 more source

Garadacimab for the long‐term prophylaxis of hereditary angioedema

open access: yesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Hereditary angioedema (HAE), a rare and debilitating disease characterized by recurrent and spontaneous attacks of tissue swelling, has a high unmet therapeutic need, with many patients experiencing insufficient disease control with current prophylactic treatments.
Emel Aygören‐Pürsün   +5 more
wiley   +1 more source

Algorithms in Allergy: Hereditary Angioedema

open access: yes
Allergy, EarlyView.
Konrad Bork   +3 more
wiley   +1 more source

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