research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
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research Orf contamination may occur during religious events
Orf infections can happen during the Muslim event 'Aid el Kebir' due to close contact with sheep.
research Trichobacteriosis Pubis Presenting as Genital Bromhidrosis
A rare bacterial infection of pubic hair can cause strong genital odor, but trimming hair and using clindamycin can quickly fix it.
research Analysing Alopecia Areata with the Trichoscopic Eye: Markers of Disease Severity, Disease Activity, Novel Findings and Association with Trichotillomania
Trichoscopy is a useful tool for diagnosing and assessing the severity of alopecia areata.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research A comparative study of histopathologic features in alopecia areata and pattern hair loss
The study found certain scalp biopsy features can help tell apart alopecia areata from pattern hair loss even when typical immune cells are not seen.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research The Aromatase Inhibitor Fadrozole and the 5-Reductase Inhibitor Finasteride Affect Gonadal Differentiation and Gene Expression in the Frog Silurana tropicalis
Fadrozole and Finasteride change frog sex ratios and cause intersex animals with altered gene expressions.
research Assessment of ultrasonographic features of polycystic ovaries is associated with modest levels of inter-observer agreement
Observers often disagree on ultrasound results for polycystic ovaries, needing better training for consistency.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Association of Dihydrotestosterone with Crowing Complexity Traits in Kokok Balenggek Roosters
This study investigated the relationship between dihydrotestosterone (DHT) levels and crowing complexity in 60 Kokok Balenggek roosters. The research found that higher DHT levels were negatively associated with the number of "lenggek" phrases and syllable count in the roosters' crowing, as shown by Poisson and multiple linear regression analyses. Spearman correlations supported these findings, and a principal component analysis-derived complexity index also indicated reduced crowing complexity at higher DHT levels. These results suggest that DHT is a significant endocrine factor influencing crowing complexity in this indigenous chicken breed, highlighting the importance of standardized vocal phenotyping in poultry research.
research Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study
Hair shaft changes may be linked to CCCA, but their role is unclear.
research Developmental and evolutionary comparative analysis of a regulatory landscape in mouse and chicken
Gene regulation evolved differently in mouse and chicken skin, but remained stable in their trunks.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes
Turkish Van cats' genotypes don't affect traits like eye color or hair length.
research Genome-wide shifts in gene expression induced in theca-interstitial cells by inflammatory stimuli
African American women have a higher risk of preterm delivery than Caucasian women, and inflammatory stimuli affect gene expression in cells related to PCOS, showing a heightened inflammatory state in women with PCOS.
research Trichostasis Spinulosa
The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Alopecia areata - probing the deforestation
The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.