research 865 Frontal fibrosing alopecia is associated with dysregulation of cholesterol biosynthesis pathways, fibrosis and mast cells
Frontal Fibrosing Alopecia involves disrupted cholesterol pathways, fibrosis, and increased mast cells.
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research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Control of pelage hair follicle development and cycling by complex interactions between follistatin and activin
Follistatin helps hair growth and cycling, while activin prevents it.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis
Trps1 is essential for proper hair follicle development.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene
Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development
Fgfr2b helps maintain healthy skin and prevent cancer.
research Frontal fibrosing alopecia: clinical presentations and prognosis
FFA is more common in postmenopausal women, can affect younger women, and may stabilize over time.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research 917 Frontal fibrosing alopecia scalp profiling links Th1/Th2 and JAK3 activation with fibrosis and loss of follicular stem cells
Targeting immune pathways like JAK/STAT may help treat frontal fibrosing alopecia.
research 1325 Age-dependent loss of the stemness and antimicrobial defense function of dermal fibroblasts is mediated by TGFbeta
Aging reduces skin cell renewal and defense against germs due to TGFbeta, but blocking TGFbeta could help restore these functions.
research Frontal fibrosing alopecia in a 46-year-old man
A 46-year-old man was diagnosed with frontal fibrosing alopecia, a condition usually seen in postmenopausal women.
research Frontal fibrosing alopecia: a disease fascinating for the researcher, disappointing for the clinician and distressing for the patient
Frontal Fibrosing Alopecia is a poorly understood condition that is hard to treat and causes distressing hair loss.
research EBF1 expressed in the dermal papilla regulates hair type and length
EBF1 controls hair type and length.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Fibroblast Growth Factor Influences the Development and Cycling of Murine Hair Follicles
bFGF delays hair growth in mice.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.