Results 131 to 140 of about 63,560 (282)

Linear signaling in the Toll-Dorsal pathway of Drosophila: activated Pelle kinase specifies all threshold outputs of gene expression while the bHLH protein Twist specifies a subset [PDF]

open access: yes, 2002
Differential activation of the Toll receptor leads to the formation of a broad Dorsal nuclear gradient that specifies at least three patterning thresholds of gene activity along the dorsoventral axis of precellular embryos.
Levine, Michael, Stathopoulos, Angelike
core  

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

open access: yesCommunity Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado   +21 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Retinoic Acid Signalling Regulates Zebrafish Tooth Germ Repair Following Injury

open access: yesCell Proliferation, EarlyView.
Retinoic acid signalling may regulate the repair processes in a tooth germ injury model using Tg(scpp5:Dendra2‐NTR) zebrafish and the nitroreductase (NTR)/metronidazole (MTZ) system. ABSTRACT Although the role of retinoic acid (RA) signalling in odontogenesis is well established, its involvement in the repair of injured tooth germs remains unclear.
Qiqi Liu   +4 more
wiley   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

open access: yesThe FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola   +11 more
wiley   +1 more source

X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo [PDF]

open access: yes, 1982
Electrophoretic variant forms of the X-linked enzyme phosphoglycerate kinase (PGK-1, E.C.2, 7, 2, 3) have been used to examine X-chromosome mosaicism in tissues from 121/2-day post coitum heterozygous female mouse embryos.
Fosten, M., McMahon, A., Monk, M.
core  

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

open access: yesThe FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio   +12 more
wiley   +1 more source

Spatial mechanisms of gene regulation in metazoan embryos [PDF]

open access: yes, 1991
The basic characteristics of embryonic process throughout Metazoa are considered with focus on those aspects that provide insight into how cell specification occurs in the initial stages of development.
Davidson, Eric H.
core  

Heat stress alters metabolic pathways and nitric oxide signaling in keratinocytes under hyperglycemia

open access: yesJournal of Diabetes Investigation, EarlyView.
This illustration depicts the effects of thermal stress on human keratinocytes maintained in both normal and high‐glucose conditions. Under normal glucose conditions, heat exposure enhances arginine metabolism and increases nitric oxide (NO) production, which promotes alterations in mitochondrial morphology and elevates heat shock protein 70 (Hsp70 ...
Syeda Tayyiba Rahat   +4 more
wiley   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

open access: yesJournal of the European Academy of Dermatology and Venereology, EarlyView.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda   +31 more
wiley   +1 more source

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