Results 251 to 260 of about 80,852 (330)

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy. [PDF]

Case Rep Endocrinol
Kluge ML, Schema L, Schroepfer K, Thoreson EK, Sarafoglou K, Rowsey RA, Marcou CA, Moyer AM, Schultz MJ.   +8 more
europepmc   +1 more source

Olfactory Function in Cystic Fibrosis: Outcome Measures, Olfactory Dysfunction Prevalence and the Impact of Management—A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox, Kofi Cox, Katherine Whitcroft, Susanne Weise, Sonal Kansra, Eishaan Bhargava   +5 more
wiley   +1 more source

Genome-wide SNP-based genomic diversity and population structure analysis in alpaca populations from Europe and Peru. [PDF]

G3 (Bethesda)
Tan K, Adeniyi OO, Letko A, Manz E, Wagner HW, Zanolari P, More M, Gutierrez-Reynoso GA, Drögemüller C, Lühken G.   +9 more
europepmc   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Genomic Diversity and Footprints of Selection in Hamdani Sheep. [PDF]

Biology (Basel)
Demir E, Perini F, Demir E, Lasagna E, Bilginer Ü, Kaya S, Göneci Fidan B, Alkan S, Karslı T, Karslı BA.   +9 more
europepmc   +1 more source

An Investigation of Sleep Macro‐ and Microarchitecture by APOE Genotype

Annals of Neurology, EarlyView.
Objectives Apolipoprotein E ε4 (APOE ε4), a robust genetic risk factor for Alzheimer's disease (AD) is associated with functional connectivity deficits and amyloid pathology in brain regions involved in sleep regulation. Thus, alterations in sleep architecture may be one pathway through which ε4 contributes to Alzheimer's disease vulnerability. However,
Gawon Cho, Anne Chen, Eunyoung Choi, Orfeu M. Buxton, Daniel Kay, Adam Mecca, Brienne Miner   +6 more
wiley   +1 more source

An analysis of the genomic architecture of the worldwide Irish Wolfhound dogs. [PDF]

Sci Rep
Bernini F, Marelli SP, Poli M, Strillacci MG.   +3 more
europepmc   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Radiographically identified vertebral fractures in haemochromatosis-associated HFE C282Y homozygotes in the UK Biobank

Banfield LR, Pilling LC, Melzer D, Shearman JD, Knapp KM, Atkins JL.   +5 more
europepmc   +1 more source