Results 171 to 180 of about 885,071 (345)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

PAF‐induced inflammatory and immuno‐allergic ophthalmic diseases and their mitigation with PAF receptor antagonists: Cell and nuclear effects

open access: yesBioFactors, Volume 48, Issue 6, Page 1226-1249, November/December 2022., 2022
Abstract Ocular allergies are becoming more prevalent as more airborne pollutants, irritants and microbes pervade our environment. Inflammatory and allergic mediators released by dendritic and mast cells within the conjunctiva cause allergic conjunctivitis (AC), a prevalent ocular surface disorder that affects >40% of the world's human population on a ...
Najam A. Sharif
wiley   +1 more source

Respiratory delivered vaccines: Current status and perspectives in rational formulation design

open access: yesActa Pharmaceutica Sinica B
The respiratory tract is susceptible to various infections and can be affected by many serious diseases. Vaccination is one of the most promising ways that prevent infectious diseases and treatment of some diseases such as malignancy.
Lan Wu   +4 more
doaj  

Mortality rates due to respiratory tract diseases in Tehran, Iran during 2008-2018: a spatiotemporal, cross-sectional study. [PDF]

open access: yesBMC Public Health, 2020
Pishgar E   +5 more
europepmc   +1 more source

Epidemiologic and pathologic characteristics of respiratory tract disease in dairy heifers during the first three months of life [PDF]

open access: bronze, 1996
Anna‐Maija Virtala   +4 more
openalex   +1 more source

Fungi and allergic lower respiratory tract diseases.

open access: yesJournal of Allergy and Clinical Immunology, 2012
A. Knutsen   +15 more
semanticscholar   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis   +16 more
wiley   +1 more source

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron   +8 more
wiley   +1 more source

Effects of tilmicosin on acute undifferentiated respiratory tract disease in newly arrived feedlot cattle [PDF]

open access: bronze, 1998
G. J. Vogel   +5 more
openalex   +1 more source

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