research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
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780-810 / 1000+ resultsresearch Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research 396 Vδ1 + T-cells are stress-sentinels in human skin and are implicated in alopecia areata pathogenesis
Vδ1+ T-cells in the skin contribute to hair loss in alopecia areata and could be targeted for treatment.
research Distribution of P2X3‐immunoreactive fibers in hairy and glabrous skin of the rat
P2X3-IR fibers are widespread in rat skin and likely help detect pain.
research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A Study of the Expression of Small Conductance Calcium-Activated Potassium Channels (SK1-3) in Sensory Endings of Muscle Spindles and Lanceolate Endings of Hair Follicles in the Rat
SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
research The Agouti Gene in Obesity: Central and Peripheral Mechanisms, and Therapeutic Implications
The agouti gene may help understand and treat obesity.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Successful treatment of alopecia universalis with abrocitinib: a case report
Abrocitinib may effectively treat stubborn alopecia universalis.
research Keratin expression in the normal nail unit: markers of regional differentiation
Different parts of the nail express different keratins, showing unique patterns of differentiation.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Alopecia Areata in Skin of Color Patients: New Considerations Sparked by the Approval of Baricitinib
The paper concludes that the new medication baricitinib needs further testing in a more diverse group of patients with alopecia areata.
research Genetic Upregulation of Activated Protein C Mitigates Delayed Effects of Acute Radiation Exposure in the Mouse Plasma
Activated protein C helps protect mice from long-term radiation damage.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse
The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.
research A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity
Keratin is crucial for skin barrier formation and affects mitochondrial function.
research Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b
A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.
research Expression and localization of A rtemis serine 516 phosphorylation in human scalp skin
Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
research Protein kinase Akt2/PKBβ is involved in blastomere proliferation of preimplantation mouse embryos
Akt2 protein is essential for normal cell division in early mouse embryos.
research Message of nexin 1, a serine protease inhibitor, is accumulated in the follicular papilla during anagen of the hair cycle
Nexin 1 may help control hair growth.
research Genetic mapping of hair loss through the APCDD1 gene pathway: A new perspective
Understanding the APCDD1 gene can lead to new hair loss treatments.