Results 211 to 220 of about 37,399,927 (279)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell   +16 more
wiley   +1 more source

Classification proposal of obliterated canals based on the position of the target point and the caliber of the root canal. [PDF]

open access: yesRestor Dent Endod
Castillo Barrios GA   +3 more
europepmc   +1 more source

Biomimetic Nanomedicine for Aging‐Impaired Bone Regeneration: From Microenvironmental Dysfunction to Precision Therapeutics

open access: yesAdvanced NanoBiomed Research, EarlyView.
Aging disrupts the cellular, immune, vascular, and neural processes required for bone regeneration. This review connects these pathological barriers with biomimetic nanomedicine design, highlighting strategies for cellular rejuvenation, immune modulation, vascular regeneration, and neuro–bone coupling.
Zeyu Wang   +12 more
wiley   +1 more source

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