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.
Search
for
Sort by
Research
570-600 / 1000+ results
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research DP18 A mimicker of melanoma on sun-exposed sites
Melanocytic matricoma can look like skin cancer but is usually harmless; surgery and follow-up are advised.
research Expression of retinoic acid receptors and dermal-epidermal interactions during mouse skin morphogenesis
Retinoic acid can change skin development, like turning scales into feathers or forming glands.
research Hemidesmosomes and Notch signaling regulate epidermal differentiation via delamination
Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
research Epithelial loss of mitochondrial oxidative phosphorylation leads to disturbed enamel and impaired dentin matrix formation in postnatal developed mouse incisor
Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
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 Ultrastructural characteristics of trichilemmal cysts: report of two cases
Trichilemmal cysts may form from hair follicle outer root sheath growth.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Expression patterns of MITF during human cutaneous embryogenesis: evidence for bulge epithelial expression and persistence of dermal melanoblasts
Melanocyte precursors in human fetal skin follow a specific migration pattern and some remain in the skin's deeper layers.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Epithelial elements in superficial angiomyxomas: mimicry of adnexal development, and mesenchymal‐to‐epithelial transition
Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research LB1774 Establishing competent morphogenetic fields for tissue pattern regeneration in skin organoids
Skin organoids can regenerate hair by forming specific cell units with certain signals.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Expression of hair-related keratins in a soft epithelium: Subpopulations of human and mouse dorsal tongue keratinocytes express keratin markers for hair-, skin- and esophageal-types of differentiation
Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
research Review of Keratin Disorders
Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.