November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
147 citations
,
August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
17 citations
,
April 2023 in “Cell Biology International” RDW is a useful, cost-effective tool for diagnosing and monitoring various diseases.
102 citations
,
August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.
51 citations
,
November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
54 citations
,
July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
1 citations
,
September 1993 in “Archives of Disease in Childhood” Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
148 citations
,
October 1997 in “Journal of Investigative Dermatology”
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
4 citations
,
January 2025 in “Translational Psychiatry” Remote photobiomodulation improves brain injury outcomes and behavior in rats.
VB-1, a natural compound, may promote hair growth by enhancing important cell signaling and increasing key gene expression.
PDGF signaling is crucial for cell development, wound healing, and fluid regulation in the body.
93 citations
,
June 2011 in “Journal of Neuroscience” p63 is essential for activating and differentiating stem cells in the nose's olfactory tissue.
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
8 citations
,
August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
April 2023 in “Journal of Investigative Dermatology” CD206+ macrophages are crucial for hair growth in alopecia areata treatment.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
29 citations
,
October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
13 citations
,
September 1997 in “Archives of Dermatology” The boy likely has a fungal infection causing hair loss.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
3 citations
,
May 2013 in “PubMed” Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.