Results 241 to 250 of about 157,517 (293)

Proteomic Insight Into Alzheimer's Disease Pathogenesis Pathways

PROTEOMICS, EarlyView.
ABSTRACT Alzheimer's disease (AD) is a leading cause of dementia, but the pathogenesis mechanism is still elusive. Advances in proteomics have uncovered key molecular mechanisms underlying AD, revealing a complex network of dysregulated pathways, including amyloid metabolism, tau pathology, apolipoprotein E (APOE), protein degradation ...
Taekyung Ryu, Kyungdo Kim, Nicholas Asiimwe, Chan Hyun Na   +3 more
wiley   +1 more source

Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1). [PDF]

J Biol Chem
Hannan FM, Kooblall KG, Stevenson M, Elajnaf T, Liu F, Lines KE, Meng X, Stewart M, Wells S, Nemeth EF, Shoichet BK, Kneissel M, Gasser JA, Thakker RV.   +13 more
europepmc   +1 more source

Genetic diversity and population structure of pedunculate oaks (Quercus robur) in Wytham Woods

PLANTS, PEOPLE, PLANET, EarlyView.
Genetic diversity underpins forest resilience and adaptation, yet centuries of human activity have reshaped woodland ecosystems worldwide. We studied the population genetics of pedunculate oaks (Quercus robur) in Wytham Woods, UK, across stands with different ages and management histories.
Tin Hang Hung, Elias Formaggia, Lucy Morley, Keith Kirby, Roberto Salguero‐Gómez, Ben C. Sheldon, John J. MacKay   +6 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tolvaptan Era. [PDF]

Int J Mol Sci
Lapão T, Barata R, Jorge C, Flores C, Calado J.   +4 more
europepmc   +1 more source

Bioinformatics‐Based Comparative Analysis of the Human Retina Proteome

PROTEOMICS – Clinical Applications, EarlyView.
ABSTRACT Introduction The human retina relies on a complex network of proteins, many of which exhibit intrinsic disorder and liquid‐liquid phase separation (LLPS), enabling dynamic interactions for retinal function. Disruptions in these properties, along with missense mutations, have been linked to retinal diseases.
Colin K. Kim, Mak B. Djulbegovic, David Broytman, Nedym Hadzijahic, Michael Antonietti, David J. Taylor Gonzalez, Vladimir N. Uversky, Nicolas A. Yannuzzi, Carol L. Karp   +8 more
wiley   +1 more source

Clinical Validity of Autosomal DominantALPK3Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

Hespe S, Singer ES, Reuter C, Murray B, Jordan E, Chowns J, Peters S, Mayers M, Gray B, Hershberger RE, Owens A, Semsarian C, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru M, Anderson K, Brown EE, Hoffman-Andrews L, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Muiño-Mosquera L, Parikh V, Walsh R, Wayburn B, Ware JS, Parker BL, Porrello ER, Elliott DA, McNamara JW, Ingles J.   +38 more
europepmc   +1 more source

Early increase of the synaptic blood marker β-synuclein in asymptomatic autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement
Oeckl P, Mayer B, Bateman RJ, Day GS, Fox NC, Huey ED, Ibanez L, Ikeuchi T, Jucker M, Lee JH, Levin J, Llibre-Guerra JJ, Lopera F, McDade E, Morris JC, Niimi Y, Roh JH, Sánchez-Valle R, Schofield PR, Otto M, Dominantly Inherited Alzheimer Network.   +20 more
europepmc   +1 more source

An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten. [PDF]

Sci Rep
Leinhos L, Robinson P, Poloni G, Broadway-Stringer S, Beglov J, Lokman AB, Douglas G, Nuthay S, Fonseka O, Schmid M, Singer E, Hooper C, Thomson K, Bagnall RD, Ingles J, Semsarian C, Ormondroyd E, Toepfer CN, Davies B, Redwood C, Watkins H, Gehmlich K.   +21 more
europepmc   +1 more source

Atypical Presentation of an <i>LMNB1</i> Duplication Involving the Silencer Region: Beyond Classical Autosomal-Dominant Leukodystrophy. [PDF]

Neurol Genet
Wang JDJ, Kimball TN, Prapiadou S, Low XZ, Vijayan J, Chin HL, Tan BY.   +6 more
europepmc   +1 more source

The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice

Prenatal Diagnosis, EarlyView.
Lilian Downie, Sebastian Lunke, Zornitza Stark   +2 more
wiley   +1 more source