Results 61 to 70 of about 3,494 (229)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. [PDF]

, 2009
Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606).
A Monreal, A Monreal, Aubry Tardivel, C Bossen, D Han, D Jumlongras, DW Stockton, Gabriele Mues, H Fan, H Vastardis, Hitesh Kapadia, I Thesleff, J Kere, J Zonana, J Zonana, JS Thompson, K Newton, L Lammi, Laure Willen, M Bayés, M Rasool, M Yan, M-JH Van den Boogaar, ML Casal, MO Lexner, N Holler, O Elomaa, O Gaide, P Schneider, P Schneider, P Tarpey, Pascal Schneider, PF Colosimo, R Tao, Rena N D'Souza, Robyn Seaman, S Ezer, S Li, S Song, Sylvia Frazier-Bowers, Y Chen   +40 more
core   +3 more sources

Ectodermal Dysplasia: A Review

Makara Journal of Health Research, 2021
Background: Ectodermal dysplasia is a complex group of genetic disorders identified through the abnormal development of ectodermal structures. It is a genetic disorder that affects the development or functions of tissues such as the teeth, hair, nails ...
Yasemin Yavuz, Mehmet Sinan Doğan, Myroslav Goncharuk-Khomyn   +2 more
doaj   +1 more source

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review [PDF]

, 2010
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).
Ida VD Schwartz, Louise LC Pinto, Roberto Giugliani, Taiane A Vieira   +3 more
core   +2 more sources

Faecal microbiome, gastrointestinal integrity, inflammation and thermoregulation in recent exertional heat illness patients and matched controls

Experimental Physiology, EarlyView.
Abstract The gastrointestinal (GI) microbiota and GI barrier integrity are hypothesised to contribute to exertional heat illness (EHI) aetiology. We compared the faecal microbiome, GI barrier integrity, inflammation and thermoregulation of 29 recent (∼4 months) EHI patients (a group with elevated EHI risk) and 29 control individuals without prior EHI ...
Alex A. M. Gould, Neil P. Walsh, Michael J. Tipton, Michael J. Zurawlew, Omar Tayari, Carol House, Simon K. Delves, Samuel C. Robson, Janis J. Shute, Joy E. M. Watts, Andrew J. Roberts, Alex J. Rawcliffe, Megan R. Robinson, Jo Corbett   +13 more
wiley   +1 more source

Hypohidrotic Ectodermal Dysplasia [PDF]

Journal of Clinical and Diagnostic Research, 2021
Chiranjit Ghosh, Shabnam Zahir, Shyamal Bar   +2 more
doaj   +1 more source

Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]

, 2008
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando, González García, Manuel, López-Arranz Monje, E., Martínez Fernández, Miguel, Pipa Vallejo, Adolfo   +4 more
core  

A 15-year perspective of the fabry outcome survey [PDF]

, 2016
The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M, Giugliani, R, Hughes, D, Kampmann, C, Nicholls, K, Niu, DM, Pintos-Morell, G, Ramaswami, U, Schenk, JM, West, M   +9 more
core   +2 more sources

Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment

The Turkish Journal of Pediatrics, 2005
Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosis and hyperthermia. We present the frequency and severity of hypohidrosis in our patients under TPM treatment.
Kutluhan Yilmaz, Burak Tatli, Ahmet Yaramiş, Nur Aydinli, Mine Calişkan, Meral Ozmen   +5 more
doaj  

Naegeli-Franceschetti-Jadassohn syndrome: A rare case

Indian Dermatology Online Journal, 2015
Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene.
Bela J Shah, Ashish K Jagati, Neha P Gupta, Suyog S Dhamale   +3 more
doaj   +1 more source