research Epitopes, avidity and IgG subclasses of tyrosine hydroxylase autoantibodies in vitiligo and alopecia areata patients
TH antibodies in vitiligo and AA patients recognize the same protein parts.
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research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research State-dependent signaling by Cav1.2 regulates hair follicle stem cell function
Cav1.2 affects hair growth and could be a target for hair loss treatments.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Delayed Puberty
Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.