research Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
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450-480 / 1000+ resultsresearch Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency
Vitamin B12 deficiency can cause reversible hair color loss in children.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Histopathological Evaluation of Human Placental Extract as a Direct Pulp-Capping Material in Dogs' Teeth
Human placental extract may be better for tooth repair than current materials.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Hair Evaluation in Orthodontic Patients with Oligodontia
Most orthodontic patients with missing teeth also have hair disorders.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation
A father and son in Yemen have a genetic condition causing hair loss and nail problems.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research 1,25-dihydroxyvitamin D resistance, rickets, and alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
research Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Salivary gland function in persons with ectodermal dysplasias
People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.