Results 71 to 80 of about 3,700 (196)
Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald +10 more
wiley +1 more source
Journal of Neurochemistry, Volume 170, Issue 3, March 2026.Using male and female tissue‐nonspecific alkaline phosphatase (TNAP) knockout (KO) and wild type (WT) mice, we show TNAP loss impairs growth and sensorimotor function and induces marked microglial morphological changes (enlarged soma, retracted processes).
Kareem Elaswad +5 more
wiley +1 more source
Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia
, 2013 Hypophosphatasia is a hereditary disorder characterized by a deficiency of serum and bone alkaline phosphatase (ALP) activity and defective skeletal mineralization.
BEREKET, ABDULLAH +3 more
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Hypophosphatasia: The Obscure Killer Lurking Among Us
, 2022 Many different pathologies in dentistry can lead to detrimental outcomes for patients. One of the more unknown examples is the disease of hypophosphatasia.
Hedges, Anna
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Journal of Periodontal Research, Volume 61, Issue 3, Page 309-322, March 2026.Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan +3 more
wiley +1 more source
The FASEB Journal, Volume 40, Issue 4, 28 February 2026.MECP2 insufficiency leads to upregulation of miR‐126‐3p, which in turn enhances the endogenous Wnt antagonist DKK1. DKK1 inhibits the canonical Wnt signaling pathway, thereby impairing RUNX2‐dependent osteoblast differentiation. ABSTRACT Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss‐of‐function mutations in the gene encoding ...
Shuangshan Dong +12 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima +8 more
wiley +1 more source
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa
, 2016 Hideo Orimo Division of Metabolism and Nutrition, Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan Abstract: Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone ...
Orimo H
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Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia [PDF]
, 2017 Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization.
Quinkler, Marcus +5 more
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Hypophosphatasia : Case report
, 1998 Hypophosphatasia is a rare metabolic disorder which manifests characteristics such as abnormal mineralization of bone and dental tissues, diminished serum and tissue alkaline phosphatase, and increased urinary secretion of PEA.
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