research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
Search
for
Sort by
Research
660-690 / 1000+ results
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research D2-40 Expression in Primary Scarring and Nonscarring Alopecia
Most people with scarring and nonscarring hair loss show similar D2-40 levels, but some with scarring hair loss have higher levels.
research 167 Epidermal GRK2 knockout triggers a hair loss phenotype with features resembling immune-mediated alopecias
Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research The hidden burden of visibility: Social appearance anxiety in patients with alopecia areata – A comparative cross-sectional study
Alopecia Areata patients experience higher social appearance anxiety due to visible hair loss.
research Expression Level of Prostaglandin D2 Receptor 2 Regulates Hair Regression
Higher levels of the DP2 receptor may lead to hair loss.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research The Functional Relevance of the Type 1 Cytokines IFN-γ and IL-2 in Alopecia Areata of C3H/HeJ Mice
IFN-γ and IL-2 are important for T cell activation in hair loss in mice.
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 Possible Involvement of Skin‐Resident Memory T Cells in Refractory Chronic Alopecia Areata
Skin-resident memory T cells may contribute to chronic alopecia areata and baricitinib could be a potential treatment.
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 Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Identification of Potential Hub Genes in Alopecia Areata
CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.
research BindingDB Entry 50021519: Discovery of (2S)-N-(6-Cyano-5-(trifluoromethyl)pyridin-3-yl)-3-(6-(4-cyanophenyl)-3,6-diazabicyclo[3.1.1]heptan-3-yl)-2-hydroxy-2-methylpropanamide as a Highly Potent and Selective Topical Androgen Receptor Antagonist for Androgenetic Alopecia Treatment.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Poster 149 Rehabilitation, Functional Status Relationship to Re‐hospitalization Rates in Patients with Hematologic Malignancy after Hematopoietic Stem Cell Transplant
Rehabilitation improved patients' mobility but did not reduce 30-day hospital readmission rates after stem cell transplants.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research DecisionDx‐Melanoma and Sentinel Lymph Node Biopsy
research 43755 Rapid Reduction and Strict Complete Response in Itch With Oral Difelikefalin in Subjects With Notalgia Paresthetica and Moderate-to-Severe Pruritus
Oral difelikefalin significantly reduces itch in notalgia paresthetica.
research Alopecia areata associated with haloperidol decanoate long-acting injection
Haloperidol decanoate can cause alopecia areata.
research Donor removal–sterile technique
The document's conclusion cannot be determined.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Dedicator of Cytokinesis 5 Regulates Keratinocyte Function and Promotes Diabetic Wound Healing
Dock5 is important for skin healing and could help treat diabetic wounds.
research A RARE CASE OF SIMULATANEOUS DEVELOPMENT OF ALOPECIA AREATA UNIVERSALIS AND TYPE 1 DIABETES MELLITUS
A 24-year-old man developed both alopecia areata universalis and type 1 diabetes at the same time, which is rare.
research VDAC2 Mediates the Apoptosis of Cashmere Goat Hair Follicle Stem Cells Through the P53 Signaling Pathway
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research 470 Exploring the possible involvement of skin-resident memory T cells in refractory chronic alopecia areata
Chronic refractory alopecia areata has more skin-resident memory T cells, and JAK inhibitors may help reduce them.