research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
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research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research A Rare Case of Isolated Pulmonary Involvement in Lymphoid Variant Hypereosinophilic Syndrome
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Could Oral Minoxidil Be Superior to Its Topical Variant for Treatment of Female Pattern Hair Loss?
research Linear Lupus Panniculitis of the Scalp Presenting as Alopecia Along Blaschko’s Lines: A Distinct Variant of Lupus Panniculitis in East Asians?
A unique type of lupus panniculitis causes reversible hair loss on the scalp in East Asians.
research Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Siberian Cats Help in Solving Part of the Mystery Surrounding Golden Cats
The CORIN gene variant causes the golden color in Siberian cats.
research Genetics of Blond Hair
Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
research NUDT15 R139C-Related Thiopurine Leukocytopenia Is Mediated by 6-Thioguanine Nucleotide-Independent Mechanism in Japanese Patients with Inflammatory Bowel Disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research A Genome-Wide Association Study of Chemotherapy-Induced Alopecia in Breast Cancer Patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research Association Between TLR1 Polymorphisms and Alopecia Areata
A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
research Association of AR rs6152G/A Gene Polymorphism With Susceptibility to Polycystic Ovary Syndrome in Chinese Women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
research Molecular Cloning, Characterization, and Expression of Sheep FGF5 Gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
research NUDT15 Polymorphism Explains Serious Toxicity to Azathioprine in Indian Patients With Chronic Immune Thrombocytopenia and Autoimmune Hemolytic Anemia: A Case Series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research HSD3B1 Gene Polymorphism and Female Pattern Hair Loss in Women with Polycystic Ovary Syndrome
HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
research Mercedes Flap With Releasing Incisions for Scalp Defects
The new Mercedes flap variant effectively closed medium-sized scalp defects in a single operation with good cosmetic results and no complications.
research ACE1 rs1799752 Polymorphism Is Not Associated With Long-COVID Symptomatology In Previously Hospitalized COVID-19 Survivors
The ACE1 gene variant doesn't affect long-COVID symptoms.
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 Whole Genome Sequencing Analysis of Alpaca Suggests TRPV3 as a Candidate Gene for the Suri Phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity
A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
research Paraoxonase 1 (PON1) L55M and Q192R Polymorphisms, Lipid Profiles, and Psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Androgenic Alopecia Associated with the HSD3B1 (1245A>C) in Overweight Women with Polycystic Ovarian Syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
research Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia
Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
research Increased Frequency of Heterozygosity for 21-Hydroxylase Deficiency Among Hirsute Females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research Occipital Fibrosing Alopecia in a Young Male: A Case Report
A young man with an unusual type of scarring hair loss suggests a possible new variant of a known scalp condition.
research Incidence of Adverse Cutaneous Drug Reactions in a Mexican Sample: An Exploratory Study on Their Association to Tumor Necrosis Factor Alpha TNF2 Allele
Mexican patients had a lower incidence of skin reactions to drugs and no significant link between these reactions and the TNF2 gene variant.