Results 81 to 90 of about 6,701 (243)
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]
, 2016 Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike +19 more
core +1 more source
Alkaline phosphatases in the complex chronic kidney disease-mineral and bone disorders [PDF]
, 2018 Alkaline phosphatases (APs) remove the phosphate (dephosphorylation) needed in multiple metabolic processes (from many molecules such as proteins, nucleotides, or pyrophosphate). Therefore, APs are important for bone mineralization but paradoxically they
Aguilar, Armando +8 more
core +1 more source
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 604-614, April 2025.Our study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Yan Wang +6 more
wiley +1 more source
Perinatal Hypophosphatasia in a Premature Infant
American Journal of Perinatology Reports, 2020 A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head.
Deepika Sankaran +2 more
doaj +1 more source
Proteoliposomes as matrix vesicles' biomimetics to study the initiation of skeletal mineralization [PDF]
During the process of endochondral bone formation, chondrocytes and osteoblasts mineralize their extracellular matrix by promoting the formation of hydroxyapatite (HA) seed crystals in the sheltered interior of membrane-limited matrix vesicles (MVs). Ion
CIANCAGLINI, P. +3 more
core +1 more source
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults [PDF]
, 2016 Background: Low serum levels of alkaline phosphatase (ALP) are a hallmark of hypophosphatasia. However, the clinical significance and the underlying genetics of low ALP in unselected populations are unclear.
Barvencik +39 more
core +2 more sources
‘Bone Health—Across a Woman's Lifespan’
Clinical Endocrinology, Volume 102, Issue 4, Page 389-402, April 2025.ABSTRACT Despite a high burden of osteoporosis and minimal trauma fractures worldwide, there is still a treatment gap in timely diagnosis and optimal treatment. There is also a lack of international consensus and guidelines on the management of bone fragility in premenopausal women.
Gabrielle Stokes +4 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2018 Hypophosphatasia is an inherited disease caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNALP), the major symptom of which is hypomineralization of the bones and teeth. We had recently demonstrated that TNALP-deficient (
Ryo Ikeue +6 more
doaj
Clinical and Translational Science, Volume 18, Issue 4, April 2025.ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.ABSTRACT Report the prevalence of multiple genetic diseases in the Undiagnosed Diseases Network (UDN) cohort in the post‐exome‐sequencing era. UDN subjects underwent genome sequencing before inclusion in the cohort. Records of all UDN subjects until January 2024 were analyzed.
Alex F. Gimeno +4 more
wiley +1 more source