Results 51 to 60 of about 2,043 (190)

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability [PDF]

, 2011
Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic ...
A Kramer, AL Tencza, B Lorenz-Depiereux, B Lorenz-Depiereux, B Lorenz-Depiereux, C Bergwitz, C Gaucher, Chih-Yang Chiu, D Filisetti, Dau-Ming Niu, DM Antoniucci, DN Cooper, EA Imel, F Francis, F Glorieux, FS Lo, H Tyynismaa, HR Song, HS Tenenhouse, HY Cho, HYP Consortium, IA Holm, J Brodehl, J Ellison, JQ Feng, JT Dunnen den, K Goji, K Sato, KB Jonsson, M Krawczak, MG Reese, Michael A. Levine, N Ito, P Makras, P-H Su, PH Dixon, PS Rowe, S Clausmeyer, S Fukumoto, S Ichikawa, S Ichikawa, SL Ferrari, T Saito, TH Wittop Koning, TJ Weber, Tjin-Shing Jap, TM Strom, U Alon, V Levy-Litan, W Xia, Y Sabbagh, Y Yamazaki, YY Chou   +52 more
core   +2 more sources

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene [PDF]

European Journal of Endocrinology, 2009
ContextX-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common clinical features including high fibroblast growth factor 23 (FGF23) levels. These diseases are caused by mutations in phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and ...
Tasuku, Saito, Yutaka, Nishii, Toshiyuki, Yasuda, Nobuaki, Ito, Hisanori, Suzuki, Takashi, Igarashi, Seiji, Fukumoto, Toshiro, Fujita   +7 more
openaire   +2 more sources

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

BMC Pediatrics, 2023
Abstract Background Hereditary hypophosphatasia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Case presentation To learn about the clinical presentation and treatment of the disease, we performed Clinical ...
Lufeng Wang, Gulimire Kulaixi, Jiazireya Zaiyinati, Guzhalikezi Aibai, Danyang Du, Yanying Guo   +5 more
openaire   +3 more sources

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects [PDF]

, 2010
Background α-Klotho (αKl) regulates mineral metabolism such as calcium ion (Ca2+) and inorganic phosphate (Pi) in circulation. Defects in mice result in clinical features resembling disorders found in human aging.
Aono, Yukiko, Econs, Michael J., Hasegawa, Hisashi, Hataya, Hiroshi, Ichikawa, Shoji, Imel, Erik A., Imura, Akihiro, Kitaoka, Taichi, Kurumatani, Norio, Murakami, Junko, Nabeshima, Yo-ichi, Nakatani, Kimihiko, Namba, Noriyuki, Okamoto, Nozomi, Ozono, Keiichi, Saito, Yoshihiko, Sakai, Tomoyuki, Shimada, Takashi, Urakawa, Itaru, Yamashita, Takeyoshi, Yamazaki, Yuji   +20 more
core   +1 more source

PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets [PDF]

, 2007
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients:
Batra, Berezikov, Carrel, Cho, Dae-Yeon Cho, Dixon, Filisetti, Francis, Francis, Grieff, Hae-Ryong Song, Holm, Hye-Ran Yoon, Jae Hyuk Yang, Joo-Won Park, Marsh, Nalla, Orstavik, Popowska, Popowska, Quarles, Ritz, Rowe, Sabbagh, Sung-Chul Jung, Tyynismaa   +25 more
core   +2 more sources

Head Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers–Danlos Syndrome

Orthodontics &Craniofacial Research, Volume 28, Issue 3, Page 555-563, June 2025.
ABSTRACT Objective To compare head posture and upper spine morphology in hypermobile Ehlers‐Danlos syndrome (hEDS) patients with healthy controls with neutral occlusion. Materials and Methods The study consisted of 27 hEDS patients (23 females, 4 males, mean age 36.41 ± 11.35) and 39 healthy controls (28 females, 11 males, mean age 31.85 ± 11.35) with ...
Ashkan Jasemi, Eva Fejerskov Lauridsen, Liselotte Sonnesen   +2 more
wiley   +1 more source

Ferric Carboxymaltose (FCM)–Associated Hypophosphatemia (HPP): A Systematic Review

American Journal of Hematology, Volume 100, Issue 5, Page 840-846, May 2025.
ABSTRACT Background Since 2015, ferric carboxymaltose (FCM), an intravenous (IV) iron formulation used for treating iron deficiency anemia (IDA), has been associated with an increasing number of reported hypophosphatemia (HPP) cases. Information on HPP clinical manifestations and incidence has not been reviewed.
Joseph Magagnoli, Kevin Knopf, William J. Hrushesky, Kenneth R. Carson, Charles L. Bennett   +4 more
wiley   +1 more source

Dental manifestations of patient with Vitamin D-resistant rickets [PDF]

, 2013
Patients with Vitamin D-resistant rickets have abnormal tooth morphology such as thin globular dentin and enlarged pulp horns that extend into the dentino-enamel junction. Invasion of the pulp by microorganisms and toxins is inevitable.
KOBAYASHI, Tatiana Yuriko, LOURENCO NETO, Natalino, MACHADO, Maria Aparecida Andrade Moreira, OLIVEIRA, Thais Marchini, SILVA, Salete Moura Bonifacio, SOUZA, Andreia Pereira   +5 more
core   +3 more sources

Familial hypophosphatemic rickets: report of a case

Paediatrica Indonesiana, 2016
Familial Hypophosphatemic Rickets (FHR) wasfound for the first time by Albright in 1937 andis also called vitamin D resistant rickets. 1-3 It isa disease that can occur through x-linked dominant,autosom dominant, and sporadic inheritance. 1-4Albright found that most FHR is x-linked dominanttype.
Edi S Tehuteru, Taralan Tambunan
openaire   +2 more sources