research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
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research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research 17927 A pilot study of intrascalp platelet-rich plasma injections for hair loss in Nigerian patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Exploring climate adaptation in European Merino sheep: a landscape genomics approach
Certain genes in European Merino sheep help them adapt to different climates.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Nosocomial Intravascular Catheter Infections with Extended-spectrum Beta-lactamase-producingEscherichia coliin Calves after Strain Introduction from a Commercial Herd
A hospital outbreak of catheter infections in calves was caused by a bacteria from a beef herd, leading to longer hospital stays, more drug use, and calf deaths.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Comment on: The Gabrin sign
The document suggests that more research is needed to confirm if baldness can indicate a higher risk of severe COVID-19 in men.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research 4th Intercontinental Meeting of Hair Research Societies 2004 The "World of Hair"
The meeting presented new findings on hair stem cells, pigmentation, genetics, and modern hair treatment techniques.
research Depression from a physical symptom.
Hair loss can be linked to hormonal changes, and physical conditions like heart defects can cause depression.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research KRT72 wt Allele
KRT72 gene helps form hair.