Results 71 to 80 of about 950 (202)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Australian Activists as Storytellers in Digital Spaces: Acquiring Skills, Producing Content and Getting the Message Out

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT As modes of activism rapidly evolve, activists—both seasoned and emerging—must increasingly navigate a hybrid terrain of both digital and non‐digital engagement. This paper draws on the personal narratives of 16 nascent activists based in Australia to explore how they develop competencies related to digital storytelling, which is critical to ...
Garth Stahl   +5 more
wiley   +1 more source

Functional Specialization of Respiratory and Olfactory Mucus Revealed by Proteomic Profiling

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Mucus overlies the nasal mucosa in the respiratory and olfactory regions, which perform distinct physiological functions. However, proteomic differences between respiratory mucosa (RM) and olfactory cleft (OC) mucus remain unclear.
Anna Kristina Hernandez   +7 more
wiley   +1 more source

In Memoriam: Bob Whiteman [PDF]

open access: yes, 2014
On February 20, 2014, the Columbia University Bioethics Program lost a dear member of its community when Bob Whiteman passed away due to complications of a brief illness.
Klitzman, Robert
core   +1 more source

Establishment and characterization of mouse lymph node fibrosis models

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Schematic illustration of four strategies for establishing mouse lymph node (LN) fibrosis models. The study further compares their fibrotic remodeling patterns and immune alterations. Abstract Background Lymph node (LN) fibrosis occurs in a variety of pathological conditions, including HIV infection, obesity, cancer, and
Yaru Niu   +8 more
wiley   +1 more source

The liver‐brain axis: A multidimensional regulatory network implicated in Alzheimer's disease pathogenesis and clinical implications

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of the core pathways of the liver‐brain axis in regulating AD. The liver regulates cerebral Aβ deposition, tau phosphorylation, and neuroinflammation through pathways such as metabolic detoxification (urea cycle, ketone body metabolism, glutathione antioxidant system), molecular secretion (APOE, CRP, FGF21, IGF‐1), and Aβ clearance ...
Ning Zhang, Wei Chen, Meng Wang
wiley   +1 more source

The treatment of women in Byron's Don Juan

open access: yes, 1974
Much has been written about Byron’s Don Juan, it epic dimensions, its lively style, its biting satire, and its rambling digressions. In such studies, references are frequently made to the women in the poem and to the poet’s treatment of them; however ...
Miller, Elizabeth Anne
core   +1 more source

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