Results 91 to 100 of about 10,054 (208)

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, Volume 309, Issue 11, Page 3375-3396, November 2026.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Sequence and structural analysis of ALPL mutations in the TNSALP protein.

, 2022
(A) The composition and statistics of ALPL mutations of based on the three categories: mild HPP, severe HPP, and control group. (B) The conservation distribution of mutations related to different phenotypes.
Xingyu Song (551440), Guang Hu (140331), Jie Long (593810), Mi Gan (9006062), Gennady Verkhivker (265906), Fei Xiao (216199), Ziyun Zhou (6437426)   +6 more
core   +1 more source

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations

Human Genome Variation
Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 
Wenjuan Li, Shujing Zeng, Jun Jiang, Bin Liu   +3 more
doaj   +1 more source

Proteomic signatures of equine dental tooth tissues in ageing and disease

Equine Veterinary Journal, Volume 58, Issue 6, Page 1552-1569, November 2026.
Abstract Background Ageing and dental disease in horses lead to structural and functional deterioration of dental tissues, yet their molecular signatures remain poorly characterised. Understanding how these processes alter the protein composition of enamel, dentin, cementum and pulp is essential for improving equine oral health and identifying ...
Anders Jensen, Danae Emilie Zambouli, Iris Gringel, Zoe Nugent, Kazuhiro Yamamoto, Lee Cooper, Andrew J. Peffers, Guido Rocchigiani, Mandy J. Peffers   +8 more
wiley   +1 more source

The Porosity and Stiffness of Articular Cartilage Extracellular Matrix Derived Scaffolds Modulate Chondrogenesis of Mesenchymal Stromal Cells

Journal of Biomedical Materials Research Part A, Volume 114, Issue 10, October 2026.
ABSTRACT Articular cartilage (AC) regeneration remains a major challenge in musculoskeletal tissue engineering. Cartilage extracellular matrix (ECM)‐derived scaffolds have shown promise as tissue‐specific biomaterials, but the extent to which the fabrication process can be tuned to modulate scaffold pore architecture and mechanics and how this might ...
Giovanni Gonnella, Tosca Roncada, Daniel J. Kelly   +2 more
wiley   +1 more source

Carbon Quantum Dots: From Mechanisms to Biomedical Applications

MedComm, Volume 7, Issue 10, October 2026.
Carbon quantum dots (CQDs) are promising carbon‐based nanomaterials with broad biomedical applications, including bioimaging, drug delivery, biosensing, and tissue regeneration. This Review summarizes the biological mechanisms of CQDs in tissue regeneration, focusing on their regulation of cellular functions, immune responses, and redox balance.
Bingxin Fan, Nianqiang Jin, Nuo Jin, Jiayu Shen, Xinliang Duan, Sichen Han, Yao Yuan, Zilin Wang   +7 more
wiley   +1 more source

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

JCRPE, 2019
Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown
Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert   +5 more
doaj   +1 more source

Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia

Clinical Case Reports, 2020
The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.
Atil Bisgin, Ibrahim Boga, Cihan Cetin, Selim Buyukkurt   +3 more
doaj   +1 more source

Expressions of Alpl mRNA and alkaline phosphatase (AP) activity in the early pregnant uterus.

, 2016
(A) The levels of Alpl mRNA were determined by qRT-PCR. Results were normalized to the housekeeping gene Rpl7 and presented as the mean ± SD of three separate experiments, with different letters (a, b, c) indicating statistical difference (p Alpl mRNA ...
Wei Lei (132543), Jeff Reese (830307), Hua Ni (171817), Jennifer Herington (2214676), Bibhash C. Paria (830306)   +4 more
core   +1 more source

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report

Journal of Medical Case Reports
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka, Yusuke Shimizu, Hiroyuki Nakamura   +11 more
doaj   +1 more source