Results 11 to 20 of about 93,705 (196)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Variation and development of the turtle chondrocranium, with a description of the common musk turtle (Sternotherus odoratus, Kinosternidae, Cryptodira, Testudines)

open access: yesThe Anatomical Record, EarlyView., 2023
Abstract Based on histological cross‐sections, the chondrocranium of the common musk turtle (Sternotherus odoratus) was reconstructed, described, and compared with other turtles. It differs from that of other turtle chondrocrania by possessing elongated, slightly dorsally orientated nasal capsules with three dorsolateral foramina, which might be ...
Luca Leicht   +2 more
wiley   +1 more source

Craniogenetic studies in Sus scrofa: With emphasis on the ‘orbitosphenoid’ problem

open access: yesThe Anatomical Record, EarlyView., 2023
Abstract The orbitosphenoid is a skeletal element of the endocranium of extant mammals. However, it has also been described in many of their fossil ancestors. Craniogenetic studies show that it is composed of two types of bone: first, the cartilaginous ala orbitalis and parts of the trabecular plate are transformed by endochondral ossification; second,
Wolfgang Maier, Ulla Lächele, Irina Ruf
wiley   +1 more source

Come together over me: Cells that form the dermatocranium and chondrocranium in mice

open access: yesThe Anatomical Record, EarlyView., 2023
Abstract Most bone develops either by intramembranous ossification where bone forms within a soft connective tissue, or by endochondral ossification by way of a cartilage anlagen or model. Bones of the skull can form endochondrally or intramembranously or represent a combination of the two types of ossification.
M. Kathleen Pitirri   +5 more
wiley   +1 more source

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

open access: yesThe Anatomical Record, EarlyView., 2023
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine   +9 more
wiley   +1 more source

The elusive scleral cartilages: Comparative anatomy and development in teleosts and avians

open access: yesThe Anatomical Record, EarlyView., 2023
Abstract The sclera of all vertebrate eyes is comprised of connective tissue, with some organisms developing cartilage within this tissue. A review of the cartilages that have been described in the vertebrate sclera and their anatomical relationships is discussed together with their potential homology.
Tamara A. Franz‐Odendaal
wiley   +1 more source

Anthropology [PDF]

open access: yes, 2015
ispartof: The Routledge handbook of mobilities pages:55 ...
openaire   +2 more sources

De Novo Reconstruction of 3D Human Facial Images from DNA Sequence

open access: yesAdvanced Science, EarlyView.
This study introduces Difface, a novel deep‐learning model for reconstructing 3D facial images only from DNA data. By integrating transformer networks, spiral convolutions, and a diffusion model, Difface directly aligns high‐dimensional SNP data with 3D facial structures.
Mingqi Jiao   +11 more
wiley   +1 more source

Anthropology [PDF]

open access: yesScientific American, 1890
n ...
openaire   +1 more source

Artificial Intelligence‐Enhanced, Closed‐Loop Wearable Systems Toward Next‐Generation Diabetes Management

open access: yesAdvanced Intelligent Systems, EarlyView.
Recent advancements in wearable healthcare have brought accessible continuous glucose monitoring systems (CGMs) for diabetes management. To address the limitations of CGMs, closed‐loop systems utilizing monitored glucose levels for insulin dosing are being developed.
Wei Huang   +5 more
wiley   +1 more source

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