research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
Search
for
Sort by
Research
630-660 / 1000+ results
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia
Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
research A study of serial vertical sectioning of scalp biopsies to increase the histological diagnostic yield in alopecias
Cutting scalp biopsies in consecutive slices improves diagnosis of hair loss conditions.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
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 Par3–mInsc and Gαi3 cooperate to promote oriented epidermal cell divisions through LGN
Par3–mInsc and Gαi3 work together to ensure proper cell division orientation in skin development.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Overexpression of Smad7 results in severe pathological alterations in multiple epithelial tissues
Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
research In vivo differentiation of scarring alopecia using line‐field confocal optical coherence tomography: a pilot study
LC-OCT can help diagnose different types of scarring alopecia.
research Defining compartmentalized stem and progenitor populations with distinct cell division frequency in the ocular surface epithelium
Stem and progenitor cells in the eye have different division rates and locations, affecting how they respond to injury.
research Trichoscopic features of folliculitis decalvans: A multicenter review
The study found that Temporal Triangular Alopecia often starts in early childhood, while Folliculitis Decalvans is characterized by tufted hairs and redness around hair follicles.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Cyclical dermal micro-niche switching governs the morphological infradian rhythm of mouse zigzag hair
Mouse zigzag hair bends form due to a 3-day cycle of changes in hair progenitors and their environment.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Smad7-Induced β-Catenin Degradation Alters Epidermal Appendage Development
Too much Smad7 changes skin and hair development by breaking down a protein called β-catenin, leading to more oil glands and fewer hair follicles.
research Neonatal Occipito-Lınear and Temporo-Fronto-Parıetal Alopecıa: Can Non-Marginal and Marginal forms of the Transient Neonatal Hair Loss be Found Together?
A baby boy had two types of temporary hair loss at birth, which might be two forms of newborn hair loss combined.
research Subcision: A Further Modification, an Ever Continuing Process
New subcision technique with a bent needle and syringe improves ease, effectiveness, and comfort for treating acne scars.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research HOXC8 initiates an ectopic mammary program by regulating Fgf10 and Tbx3 expression, and Wnt/β-catenin signaling
Hoxc8 gene helps start mammary gland development by controlling specific signals.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Ear pinna growth and differentiation is conserved in murids and requires BMP signaling for chondrocyte proliferation
BMP5 is essential for ear cartilage cell growth in rodents.
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 Delayed Diagnosis of Congenital Imperforate Hymen Resulting in Obstructing Hematometrocolpos
Early diagnosis of imperforate hymen is crucial to prevent complications.
research Furnishing Wound Repair by the Subcutaneous Fascia
The subcutaneous fascia is key to fast wound healing and could improve treatments for chronic wounds and scarring.
research Lipedematous alopecia: an uncommon clinicopathologic variant of nonscarring but permanent alopecia
Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
research Anatomy and Physiology of the Skin
The skin is essential for protection, temperature control, and immune defense.
research Adenolipoma—Eccrine and Apocrine Variants With Evidence for a Hamartomatous Process
Adenolipomas may develop from gland entrapment by fat tissue, showing complex and varied forms.
research Lateral oblique forehead lines: redefining sleeping lines and treatment with botulinum toxin A
Lateral oblique forehead lines are caused by muscle movement, not sleep positions, and can be treated with botulinum toxin A.
research Dermoscopy before and after treatment of cutaneous larva migrans: Through the dermoscope
Dermoscopy may not show hookworms clearly, and comparing it with tissue studies could improve diagnosis accuracy for skin conditions caused by parasites.