research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
Search
for
Sort by
Research
600-630 / 1000+ results
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Association between genetically predicted rheumatoid arthritis and alopecia areata: a two-sample Mendelian randomization study
People with rheumatoid arthritis have a higher risk of developing alopecia areata.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Genetic Control/Involvement in Hair Fiber Traits
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Alopezien und Hypotrichosen im Kindesalter
Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Genetic factors in the etiology of intervertebral disc herniation and protrusion
Genetic factors play a crucial role in the development of intervertebral disc herniation and protrusion.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Genetic links between atopy, allergy, and alopecia areata: insights from a Mendelian randomization study
Allergies and atopic conditions may increase the risk of developing alopecia areata.