Results 61 to 70 of about 2,414 (178)

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

, 2011
CONTEXT: Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. The gene product ANK is supposed to regulate tissue mineralization by transporting pyrophosphate to the extracellular space ...
Drijvers, J.M., Deen, P.M.T., Alphons de Jong, Dirk Lefeber, Krysta Voesenek, Jirko Kühnisch, Cor Cremers, Amanda Branten, Joris H. Robben, Wevers, R.A., O'Neill, C.W., de Jong, Alphons, Willemsen, M.H., Hedi L. Claahsen-van der Grinten, Lefeber, D.J., Kühnisch, Jirko, Kornak, Uwe, Jefte M. Drijvers, Jong, A. de, Ron A. Wevers, Willemsen, Michèl A, Heister, A., Kornak, U., Sabine Stumpp, Stumpp, Sabine, Petra van Setten, Robben, Joris H, Voesenek, Krysta, Sascha Vermeer, Setten, P. van, Vermeer, S., Charles W. O'Neill, Wevers, Ron A, Deen, Peter M T, Claahsen-van der Grinten, H.L., Cremers, Cor, van Setten, Petra, Cremers, C.W.R.J., Lefeber, Dirk, Morava, E., Claahsen-van der Grinten, Hedi L, Robben, J.H., Peter M. T. Deen, Uwe Kornak, Kremer, Hannie, Branten, A.J.W., Kuhnisch, J., Stumpp, S., Eva Morava, Drijvers, Jefte M, Morava, Eva, Branten, Amanda, Kremer, J.M.J., Heister, Angelien, O'Neill, Charles W, Voesenek, K.E.J., Michèl A. Willemsen, Angelien Heister, Hannie Kremer, Vermeer, Sascha   +59 more
core   +2 more sources

Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets

, 1997
X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary rickets. Recently we have cloned thePEX gene and shown it to be mutated and deleted in HYP individuals.
Christina Steffens, Steffen Hennig, Thomas Meitinger, Bettina Lorenz, Sven Klages, Michele Cagnoli, Richard Reinhardt, Annett Böddrich, Claudine Oudet, Klaus L. Mohnike, Michael J. Econs, Katja Borzym, Fiona Francis, Thomas Pohl, Hans Lehrach, Oliver Brandau, Peter S.N. Rowe, Tim M. Strom   +17 more
core   +1 more source

Endocrine Regulation of Phosphate Homeostasis [PDF]

, 2018
author's chapter in edited workPhosphate, a component of nucleic acids, DNA and RNA, is incorporated in the structure of phospholipids in cell membranes, and is involved in many biological functions such as cell signaling, energy metabolism, and bone ...
Brown, Ronald B., Ronald B. Brown, Razzaque, Mohammed S., Mohammed S. Razzaque   +3 more
core   +1 more source

Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets

, 2010
<i>Introduction:</i> X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations.
Y. Zhao, L.Y. Phua, M. Chandran, C.L. Chng, Y.M. Bee, B.L. Clarke   +5 more
core   +1 more source

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets

, 2015
Hypophosphatemic rickets (HR) is a syndrome of hypophosphatemia and rickets that resembles vitamin D deficiency, which is caused by malfunction of renal tubules in phosphate reabsorption. Phosphate is an essential mineral, which is important for bone and
Razali, Nurul Nadirah, Karrupiah, Thilakavathy, Ting, Tzer Hwu   +2 more
core   +1 more source

A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family

JBMR Plus
Abstract Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal PHEX gene, but autosomal dominant and recessive forms also exist.
Laura Koponen, Minna Pekkinen, Jelmer Legebeke, Mari Muurinen, Salla Rusanen, Shabir Hussain, Fan Wang, Pasi I Nevalainen, Outi Mäkitie   +8 more
openaire   +4 more sources

Issue Information

Epilepsia Open, Volume 11, Issue 3, Page 683-691, June 2026.
wiley   +1 more source

A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia

, 2012
Objective.Familial Hypocalciuric Hypercalcemia (FHH) syndrome is a rare benign condition, inherited as an autosomal dominant trait, in which inactivating mutations of the calcium-sensing receptor (CASR) gene affects the body's ability to regulate calcium
G. Leoncini, L. Cavalli, A. Gozzini, A. Falchetti, G. Vezzoli, MASI, LEONARDO, M. L. Brandi, F. Giusti, F. Franceschelli, A. Tanini, L. Soldati, A. Terranegra   +11 more
core   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

The Burden of Adult X-Linked Hypophosphatemia on Carers and Family Members: A Mixed-Methods Study

Journal of Health Economics and Outcomes Research
Introduction X-linked hypophosphatemia (XLH) is a rare, genetic disorder that severely impacts the health-related quality of life (HRQoL) of people living with the condition. This impact can also extend to carers and family members, described as a “spillover effect.” Measurement of spillover effects can lead to ...
Elina Matter, Claire Lawrence, Oliver Gardiner, Victoria Hayes, Gillian Logan, Ben Johnson, Andrew Lloyd   +6 more
openaire   +3 more sources