Results 211 to 220 of about 1,411,488 (286)

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

open access: yesClinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud   +19 more
wiley   +1 more source

Vulnerability of marine megafauna to global at‐sea anthropogenic threats

open access: yesConservation Biology, Volume 40, Issue 1, February 2026.
Abstract Marine megafauna species are affected by a wide range of anthropogenic threats. To evaluate the risk of such threats, species’ vulnerability to each threat must first be determined. We build on the existing threats classification scheme and ranking system of the International Union for Conservation of Nature (IUCN) Red List of Threatened ...
Michelle VanCompernolle   +309 more
wiley   +1 more source

Association between comorbid anxiety and depression symptomatology, quality of life, social support and use of mental health services in youth from Bogota, Buenos Aires, and Lima.

open access: yesJ Affect Disord
Vilela-Estrada AL   +12 more
europepmc   +1 more source

[Effectiveness and safety of COVID-19 vaccines in healthcare workers in Buenos Aires City, Argentina.] [PDF]

open access: yesRev Fac Cien Med Univ Nac Cordoba
Pagotto V   +7 more
europepmc   +1 more source

Protein tandem repeats that produce frameshifts can generate new structural states and functions

open access: yesThe FEBS Journal, Volume 293, Issue 3, Page 842-858, February 2026.
We explored an alternative protein structure landscape by analyzing amino acid sequences from frameshifted tandem repeats—regions prone to frameshifts. These frameshifts, especially in short repeats, lead to more drastic changes than in non‐repetitive regions, often altering structure, function, localization, and potentially contributing to disease ...
Zarifa Osmanli   +8 more
wiley   +1 more source

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