research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
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660-690 / 1000+ resultsresearch Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Response to “Vitamin D deficiency in patients with alopecia areata: A systematic review and meta-analysis” and an investigation of vitamin D in pediatric patients
Children with autoimmune hair loss have similar vitamin D levels to healthy kids, suggesting no extra screening is needed.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Oral calcitriol in the treatment of scleroderma 'en coupe de sabre'
Oral calcitriol helped improve scleroderma and hair regrowth in a young woman.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Disruption of the hedgehog signaling pathway contributes to the hair follicle cycling deficiency in Vdr knockout mice
Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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 The vitamin D receptor, the skin and stem cells
Vitamin D receptor is crucial for healthy hair growth and preventing hair loss.
research The Vitamin D Receptor Is Required for Mouse Hair Cycle Progression but not for Maintenance of the Epidermal Stem Cell Compartment
Vitamin D Receptor is needed for hair growth in mice but not for skin stem cell maintenance.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Evaluation of Keratinocyte Proliferation and Differentiation in Vitamin D Receptor Knockout Mice
Alopecia in VDR knockout mice is due to impaired hair cycle initiation, not keratinocyte issues.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Vitamin D receptor depletion by Wnt/beta-catenin signaling caused alopecia areata in human Immunobiology, Alopecia Areata
Lack of Vitamin D receptors can cause hair loss.
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 Abnormal expression of VDR in the hair follicle of alopecia areata
Low Vitamin D receptor levels in hair follicles may contribute to alopecia areata.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Vitamin D Receptor, UVR, and Skin Cancer: A Potential Protective Mechanism
Vitamin D receptor may help protect against UV-induced skin cancer.
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 Association of Alopecia Areata with Vitamin D and Calcium Levels: A Systematic Review and Meta-analysis
People with Alopecia Areata often have lower vitamin D levels, and vitamin D supplements might help treat it.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research Vitamin D status in polycystic ovary syndrome
People with polycystic ovary syndrome often have low levels of vitamin D.