research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
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research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Development of a new therapeutic approach based on peptide nanoparticles delivering CRISPR-Cas9 for the specific targeting of KRAS mutations
Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research The mRNA for Protease Nexin-1 is Expressed in Human Dermal Papilla Cells and its Level is Affected by Androgen
Human skin cells contain Protease Nexin-1, and male hormones can decrease its levels, potentially affecting hair growth.
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Pityriasis rubra pilaris unveiling a case of a new onset hepatitis C infection
A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
CT60 polymorphism might increase the risk of Alopecia Areata.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research 783 Influence of TNF gene polymorphism in patients with acute and fulminnant hepatitis
research 557 A peptide derivative with known anti-wrinkle properties was identified as potent dipeptiylpeptidase-4 inhibitor
A peptide known for reducing wrinkles also effectively inhibits an enzyme linked to skin inflammation and acne.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.