Results 171 to 180 of about 255,153 (264)

A Spatiotemporal Single‐Cell Atlas Uncovers Dysregulated ECM Dynamics and Septal Remodeling Arrest in Human Ventricular Septal Defects

open access: yesAdvanced Science, EarlyView.
Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang   +9 more
wiley   +1 more source

Progress and Prospects of Newborn Screening in China. [PDF]

open access: yesInt J Neonatal Screen
Hao X   +5 more
europepmc   +1 more source

Lipid Metabolic Dysregulation Driven by OSMR Mutations Underlies Amyloidogenesis in Primary Localized Cutaneous Amyloidosis

open access: yesAdvanced Science, EarlyView.
OSMR mutations disrupt STAT5 signaling and AKR1B10‐mediated lipid metabolism, leading to lipid accumulation and protein aggregation in keratinocytes. This metabolic reprogramming drives amyloid deposition in primary localized cutaneous amyloidosis, revealing a mechanistic link between lipid dysregulation and amyloidogenesis.
Huiting Liu   +8 more
wiley   +1 more source

Congenital Anomaly Prevalence: A 10-Year Retrospective Study in a Tertiary Hospital in Turkey. [PDF]

open access: yesBirth Defects Res
Çetin H   +6 more
europepmc   +1 more source

An Adenoviral‐Vectored Tp0326 Vaccine Elicits Robust Functional Antibodies to Prevent Treponema pallidum Dissemination in a Rabbit Model

open access: yesAdvanced Science, EarlyView.
Vaccination promotes cellular infiltration into primary lesions and effectively inhibits T. pallidum dissemination to distal organs. Notably, transfer of lesion tissue from immunized animals fails to establish infection in naive recipients, confirming specific protective immunity.
Yinbo Jiang   +4 more
wiley   +1 more source

Case series on Zika virus genome detection in cerebrospinal fluid samples from newborns at a Brazilian tertiary hospital. [PDF]

open access: yesRev Inst Med Trop Sao Paulo
Zimmerman SF   +5 more
europepmc   +1 more source

Non-Treatment of Defective Newborns

open access: yes, 1983
Silverman, William   +2 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

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