Results 111 to 120 of about 31,137 (305)

Tissue steroid levels in response to reduced testicular estrogen synthesis in the male pig, Sus scrofa. [PDF]

open access: yes, 2019
Production of steroid hormones is complex and dependent upon steroidogenic enzymes, cofactors, receptors, and transporters expressed within a tissue.
Berger, Trish   +3 more
core   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

open access: yesClinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima   +8 more
wiley   +1 more source

2014 REU Poster: Measuring Tryptophan Metabolism Using Analogs of Tryptophan [PDF]

open access: yes, 2014
Poster presentation at REU Summer's End Research Symposium, 2014, by REU participant Thierno Diallo, Roxbury Community College - John "Chip" Celenza group, Sanda Zolj lab mentorNSF ...
Diallo, Thierno
core   +1 more source

Simultaneous Grafting of 3,4,5‐Trihydroxypiperidine Iminosugars Onto Multivalent Scaffolds via Double Reductive Amination Provides New GCase Inhibitors

open access: yesChemistry – A European Journal, Volume 32, Issue 2, 9 January 2026.
A small set of low‐valency multivalent 3,4,5‐trihydroxypiperidines was prepared through double reductive amination (DRA) of a sugar‐derived dialdehyde. Among them, trivalent derivative 37 emerged as a potent β‐glucocerebrosidase (GCase) inhibitor displaying an unexpected mixed‐type kinetic profile. The integration of kinetic analysis, NMR, docking, and
Maria Giulia Davighi   +10 more
wiley   +1 more source

A heterozygous moth genome provides insights into herbivory and detoxification [PDF]

open access: yes, 2013
How an insect evolves to become a successful herbivore is of profound biological and practical importance. Herbivores are often adapted to feed on a specific group of evolutionarily and biochemically related host plants1, but the genetic and molecular ...
A Li   +132 more
core   +1 more source

SULF1 in Cancer Associated Fibroblasts Promotes Invasion in Head and Neck Cancer Cell Lines

open access: yesCancer Medicine, Volume 15, Issue 1, January 2026.
ABSTRACT Background Cancer‐associated fibroblasts (CAFs) significantly influence tumor behavior in head and neck squamous cell carcinoma (HNSCC) and other malignancies. We identified the extracellular sulfatase SULF1 as a key stromal factor highly expressed in CAFs and associated with poor prognosis.
Pritha Mukherjee   +4 more
wiley   +1 more source

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

open access: yesJournal of Medical Case Reports, 2017
Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes.
Amna Malik   +7 more
doaj   +1 more source

3-Sulfogalactosyl-dependent adhesion of Escherichia coli HS multivalent adhesion molecule is attenuated by sulfatase activity

open access: yesJournal of Biological Chemistry, 2017
Bacterial adhesion to host receptors is an early and essential step in bacterial colonization, and the nature of adhesin–receptor interactions determines bacterial localization and thus the outcome of these interactions.
Fitua Al-Saedi   +3 more
semanticscholar   +1 more source

Multilocus Genetic Variants in a Child With Neuro‐Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh   +5 more
wiley   +1 more source

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA [PDF]

open access: yes, 2014
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and skeletal abnormalities, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH ...
Becker, Stefan   +8 more
core   +2 more sources

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