February 2024 in “Infection and drug resistance” Tinea capitis in a child was caused by a fungus from cats, highlighting the need for accurate diagnosis and treatment.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
101 citations
,
August 2001 in “The Journal of Cell Biology” A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.
1 citations
,
March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
15 citations
,
January 1971 in “British Journal of Dermatology” Hair can indicate early signs of metabolic disorders, with issues like protein deficiency stopping hair growth.
2 citations
,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
3 citations
,
February 2012 in “The American Journal of Dermatopathology” A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
7 citations
,
November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
86 citations
,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
1 citations
,
October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
27 citations
,
January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
21 citations
,
April 1982 in “Genetics Research” Mice with the naked gene have missing or abnormal hair cells.
2 citations
,
January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Chemokine signaling is important for hair development.
30 citations
,
January 1999 in “Journal of Cutaneous Pathology” Spiny keratoderma may be ectopic hair formation on palms and soles.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
11 citations
,
January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
38 citations
,
October 2011 in “Analytical biochemistry” Hair proteins have weak spots in their α-helical segments.
3 citations
,
September 2020 in “Case reports in dermatological medicine” Misdiagnosing kerion as a bacterial infection can lead to unnecessary surgery and permanent hair loss.