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About 130 results

ALLMedicine™ Adams-Oliver Syndrome Center

Research & Reviews  52 results

NOTCH1 loss of the TAD and PEST domain: An antimorph?
https://doi.org/10.1002/ajmg.a.63167
American Journal of Medical Genetics. Part A; Boerkoel P, Huynh S et. al.

Mar 4th, 2023 - The Notch proteins play key roles in cell fate determination during development. Germline pathogenic variants in NOTCH1 predispose to a spectrum of cardiovascular malformations including Adams-Oliver syndrome and a wide variety of isolated complex...

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver ...
https://doi.org/10.1016/j.ejmg.2022.104653
European Journal of Medical Genetics; Zepeda-Romero LC, Zenker M et. al.

Nov 5th, 2022 - Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype...

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patie...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826191
American Journal of Medical Genetics. Part A; Lukas ML, Harald G et. al.

Sep 6th, 2022 - Aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD) are the characteristic findings of Adams-Oliver syndrome (AOS). The variable clinical spectrum further includes cardiac, neurologic, renal, and ophthalmological...

A Drosophila Su(H) model of Adams-Oliver Syndrome reveals cofactor titration as a mecha...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9398005
PLoS Genetics; Gagliani EK, Gutzwiller LM et. al.

Aug 12th, 2022 - Notch signaling is a conserved pathway that converts extracellular receptor-ligand interactions into changes in gene expression via a single transcription factor (CBF1/RBPJ in mammals; Su(H) in Drosophila). In humans, RBPJ variants have been linke...

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
https://doi.org/10.1002/ana.26477
Annals of Neurology; Helman G, Zarekiani P et. al.

Aug 11th, 2022 - NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams-Oliver syndrome, and cardiovascular defects. We describe 7 unrelated pati...

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