112 citations
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October 2008 in “Wound Repair and Regeneration” Sonic hedgehog signaling is crucial for normal wound healing.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
76 citations
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January 2010 in “Journal of bone and mineral metabolism” 47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
41 citations
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May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
29 citations
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
9 citations
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August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
5 citations
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January 2021 in “Indian Journal of Pathology and Microbiology” A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
4 citations
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November 2024 in “International Journal of Molecular Sciences” COVID-19 may worsen Parkinson's disease by affecting certain brain proteins.
4 citations
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January 2010 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
3 citations
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October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
3 citations
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January 2020 in “International journal of trichology” Congenital triangular alopecia is a hair loss condition present from birth or early childhood with no effective treatment needed.
2 citations
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September 2025 in “International Journal of Nanomedicine” Extracellular vesicles can help treat skin issues like wounds, hair loss, aging, and inflammation.
2 citations
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July 2022 in “Frontiers in Medicine” The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
1 citations
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December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Keeping β-catenin levels high in mammary cells disrupts their development and branching.
1 citations
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November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
1 citations
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August 2021 A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
1 citations
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February 2020 in “Regenerative Medicine” Significant progress and collaborations in stem cell research and regenerative medicine were made, including advancements in hair growth, cancer therapies, and treatments for neurological disorders.
The new biomimetic skin heals wounds faster and better than traditional treatments, without scarring.
June 2025 in “Frontiers in Immunology” Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
September 2024 in “Journal of the American Academy of Dermatology” A new type of alopecia areata, called the "confetti variant," causes small bald spots that often heal on their own in a few months.
March 2024 in “Frontiers in Endocrinology” The study found that alopecia areata and hypothyroidism increase the risk of each other, but androgenetic alopecia and hypothyroidism do not.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
29 citations
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June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
2 citations
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January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
854 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
318 citations
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January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.