research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
Search
for
Sort by
Research
90-120 / 1000+ resultsresearch RNA interference of NtNCED3 reduces drought tolerance and impairs plant growth through feedback regulation of isoprenoids in Nicotiana tabacum
Silencing NtNCED3-2 gene in tobacco reduces drought tolerance and impairs growth.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Characteristic intraepidermal nerve fibre endings of the intervibrissal fur in the mystacial pad of the rat: morphological details revealed by intravital methylene blue staining and the zinc iodide-osmium tetroxide technique
Methylene blue staining effectively highlights detailed nerve structures in rat fur.
research Narrowband UVB treatment induces expression of WNT7B, WNT10B and TCF7L2 in psoriasis skin
Narrowband UVB treatment increases certain gene expressions in psoriasis skin and improves symptoms.
research Nevus Sebaceous
Nevus sebaceous is identified by unique skin changes, including thickened skin, fewer hair follicles, and many sebaceous glands.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research Wnt Signaling Across Adult Skin Mini-Organs: Interfollicular Epidermis, Hair Follicle, and Nail—Implications for Disease and Regeneration
Wnt signaling is crucial for skin, hair, and nail health and regeneration.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Late onset nevus comedonicus of scalp: a rare site for an uncommon condition
A rare skin condition appeared on a 19-year-old woman's scalp.
research MiR-23b and miR-133 cotarget TGFβ2/NOTCH1 in dermal fibroblasts and affect hair follicle development in sheep
Two microRNAs affect hair follicle development in sheep by targeting specific genes.
research Deciphering the molecular morphology of the human hair cycle: Wnt signalling during the telogen–anagen transformation
Wnt signaling is important for the change from the resting phase to the growth phase in human hair cycles.
research Molecular expression associated with vibrissa follicle development and differentiation
Id proteins, especially Id2 and Id3, are crucial for hair follicle development and stem cell regulation.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research 516 Dynein is involved in the movement, distribution, acidity, and transfer of melanosomes
Dynlt3 is important for melanosome transport and skin coloration.
research Whn and mHa3 are components of the genetic hierarchy controlling hair follicle differentiation
Whn is crucial for hair growth in certain areas by controlling a specific gene.
research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research Thermal extraction of dipicolinic acid from bacterial spores using acidic buffer solution.
Wnt1a from stem cells boosts hair growth and regeneration in mice.
research Wnt signaling modulates mechanotransduction in the epidermis to drive hair follicle regeneration
Wnt signaling helps regenerate hair follicles by affecting how skin cells sense and respond to mechanical forces.
research 1458 EMT-inhibiting transcription factor Ovol2 regulates directional cell migration and proliferation in adult skin epithelia
Ovol2 is important for proper skin healing and hair growth.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Mesenchymal Meis2 controls whisker development independently from trigeminal sensory innervation
Mesenchymal MEIS2 is essential for whisker development without needing sensory nerves.
research Reviewer #1 (Public review): Mesenchymal Meis2 controls whisker development independently from trigeminal sensory innervation
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
research The swelling behaviour of hair studied through the structural change of keratin protein during the permanent waving treatment
Hair structure changes immediately during perm treatment, with initial damage partially restored later.
research Nitrogen Mustard Induces DNA Damage and Structural Changes in Mouse Skin Hair Follicles
Nitrogen mustard causes DNA damage and structural changes in mouse skin hair follicles, but some recovery occurs after 5 days.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.