research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
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690-720 / 1000+ resultsresearch Directed Expression of a Chimeric Type II Keratin Partially Rescues Keratin 5-null Mice
A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
research Prediction of the Development of Depression in Patients with Autoimmune Thyroiditis and Hypothyroidism
BDNF, TSH, fT4, anti-TPO, and 25-OH Vitamin D levels predict depression risk in patients with autoimmune thyroiditis and hypothyroidism.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Bone Morphogenetic Protein Antagonist Noggin Promotes Skin Tumorigenesis via Stimulation of the Wnt and Shh Signaling Pathways
Noggin promotes skin tumors by activating certain cell signaling pathways.
research A rare adverse event following laser hair reduction
Laser hair reduction can sometimes cause a rare skin condition called Fox-Fordyce disease.
research New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research Blood donors on teratogenic drugs and donor deferral periods in a clinical situation
Some blood donors on teratogenic drugs may have unsafe drug levels, suggesting a need for better deferral policies.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Possible biotin deficiency in adults receiving long-term total parenteral nutrition
Biotin deficiency can cause hair loss in adults on long-term TPN, but supplementation helps regrow hair.
research BMP-FGF Signaling Axis Mediates Wnt-Induced Epidermal Stratification in Developing Mammalian Skin
Wnt signaling is essential for forming the skin's spinous layer through a BMP-FGF pathway.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Effects of TGFBR1 on Proliferation of Dermal Papilla Cells in Fine-Wool Sheep
TGFBR1 slows down cell growth in fine-wool sheep hair follicles.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Enhanced Insights into Frontal Fibrosing Alopecia: Advancements in Pathogenesis Understanding and Management Strategies
Frontal Fibrosing Alopecia needs better diagnostics and treatments, with dutasteride showing promise.
research Impaired skin and hair follicle development in Runx2 deficient mice
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Topical fluocinolone acetonide acetate ointment in autosomal dominant congenital hypotrichosis
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research FFA Patient Profile Analysis Based on the Authors’ Observations and a Review of the Literature—An Original Survey
Frontal fibrosing alopecia often occurs after menopause, with delayed diagnosis and possible links to certain medications and conditions.
research Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research Telogen Phase of Hair Growth Cycle Is Regulated by Cyclic Epithelial FGF18 Signaling
FGF18 controls hair growth rest phase.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research To study hypoactive sexual desire disorder in a fragile X carrier female successfully treated with local testosterone application
Local testosterone treatment improved sexual desire in a female with fragile X syndrome.
research Nanostructured lipid carriers promote percutaneous absorption and hair follicle targeting of tofacitinib for treating alopecia areata
Nanostructured lipid carriers effectively deliver tofacitinib to hair follicles, reversing hair loss in alopecia areata.