research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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450-480 / 1000+ results research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research Ectopic acanthosis nigricans at a post-syndactyly surgical site: An unusual reactive epidermal phenomenon
Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research Mouse Epidermal Neural Crest Stem Cell (EPI-NCSC) Cultures
Mouse epidermal neural crest stem cells can become various cell types and are easily obtained from hair follicles.
research Canine Epidermal Neural Crest Stem Cells: Characterization and Potential as Therapy Candidate for a Large Animal Model of Spinal Cord Injury
Canine epidermal neural crest stem cells could be a promising treatment for spinal cord injuries in dogs.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Necl2 regulates epidermal adhesion and wound repair
Necl2 affects skin cell behavior and slows wound healing.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Merkel cell differentiation in trichoblastoma
Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
research Study of normal hair and of some malformations with a scanning electron microscope
Hair malformations may occur due to timing issues in hair development.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research 1375 Cutaneous adnexal cysts revisited: A novel classification based on morphological and molecular features
The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
research A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"
A 4-year-old girl has a rare hair condition causing fragile, short hair.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Characterizing enteric neurons in Dopamine Transporter (DAT)-Cre reporter mice reveals dopaminergic subtypes with dual-transmitter content
Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.