research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
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840-870 / 1000+ resultsresearch Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Effect of Mutations on the Proteins of Wool and Hair
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Distinct Developmental Functions of Prostasin (CAP1/PRSS8) Zymogen and Activated Prostasin
Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Bioactive Proteolytic Enzymes Chymotrypsin and Papain as Adjuvants to Laser Hair Removal: Reducing the Risk of Paradoxical Hypertrichosis in Women with Facial Hirsutism
Using enzymes with laser hair removal may reduce unwanted hair growth better than laser alone.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Viremia and viruria of trichodysplasia spinulosa‐associated polyomavirus before the development of clinical disease in a kidney transplant recipient
The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.
research A novel purification procedure for keratin-associated proteins and keratin from human hair
A new method effectively separates keratin-associated proteins and keratin from human hair.
research Clinical Snippets
Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
research The association of Wnt – Factor TCF7L2 (TCF4) gene polymorphism and treated Alopecia Areata (Platelet rich plasma Vs conventional)
TCF7L2 gene polymorphism is linked to alopecia areata, but it doesn't affect the success of PRP or conventional treatments.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Table 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.xlsx
Researchers created an efficient method to extract DNA from marmoset hair, avoiding blood chimerism.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Investigation of the crosstalk between proteasome function and nucleotide excision repair mechanism during ageing
The document concludes that the discussed biological mechanisms and potential therapies are not related to hair loss or hair growth.
research FPRL1 Receptor Agonist Peptides Prevent Etoposide-Induced Alopecia in Neonatal Rats
Certain peptides can prevent hair loss in young rats caused by a cancer drug.
research Concomitant presentation of alopecia areata in siblings: A rare occurrence
Two siblings both had a rare case of alopecia areata at the same time.
research Tineas—Superficial Dermatophyte Infections
Scalp fungal infections need oral antifungals, while other skin fungal infections can be treated with creams; keep areas dry and don't stop treatment early.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.