Results 81 to 90 of about 7,210 (112)

Revisiting the Genetics of Hypophosphatasia. [PDF]

J Inherit Metab Dis
Kishnani PS, Rehder C, Ozono K, Pérez-López J, Del Angel G, Mowrey WR, Balasubramanian M, Högler W, Rush ET.   +8 more
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Predictive modeling of stem cell suppression by inflammatory cytokine networks: A synthetic transcriptomic approach for periodontal tissue engineering. [PDF]

J Oral Biol Craniofac Res
Arumuganainar D, Yadalam PK.
europepmc   +1 more source

Role of Inositol Hexakisphosphate Kinases in Vascular Smooth Muscle Cell Calcification. [PDF]

Int J Mol Sci
Bahiraii S, Jannat I, Plösser S, Razazian M, Voelkl J, Alesutan I.   +5 more
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Alkaline phosphatase (ALPL) as a diagnostic and prognostic biomarker linked to immune response in thyroid cancer. [PDF]

Gland Surg
Gao M, Yi J, Liu L, Xu L.
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A calcium-sensing MCTP1/FYN/MEF2C circuit drives therapy-induced neuroendocrine prostate cancer. [PDF]

Neoplasia
Dung PVT, Chen WY, Liu MK, Yeh SD, Kajla G, Yeh HL, Chen WH, Jiang KC, Li HR, Chen CS, Beltran H, Wen YC, Liu YN.   +12 more
europepmc   +1 more source

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[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature.Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing.
Yan, Cui, Yingxian, Zhang, Dongxia, Fu, Xiaojing, Liu, Haiyan, Wei   +4 more
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A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia

Bone, 2017
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase,
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann   +3 more
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A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene

Journal of Pediatric Endocrinology and Metabolism
Abstract Objectives Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database.
Yuji, Oto, Daiki, Suzuki, Tsubasa, Morita, Takeshi, Inoue, Akihisa, Nitta, Nobuyuki, Murakami, Yuuka, Abe, Yoshinobu, Hamada, Tomoyuki, Akiyama, Tomoyo, Matsubara   +9 more
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