Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

A new mutation in the HR gene causes hair loss in a specific family.

This study found that quiescent bulge stem cells, when prevented from contributing to hair follicle and epidermal regeneration, did not affect hair follicle growth or wound healing in the short term.

This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.

This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.

This case report suggests that poor hair and nail growth in children with autism spectrum disorder and developmental delay may indicate a biotin-responsive condition, as biotin and acetazolamide therapy improved symptoms and school performance in the reported patient.

This review summarizes the role of Hoxc13 in regulating hair follicle development and growth, noting its influence on keratin and keratin-associated proteins, and reports no new experimental findings.

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.

This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.

This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.

This review discusses idiopathic hirsutism and suggests that combination treatment, including androgen suppression and cosmetic methods, is most effective, but notes that its pathogenesis remains unclear.

This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.

This study analyzed gene expression data to identify key genes involved in severe forms of alopecia areata, discovering four immune monitoring genes (LGR5, SHISA2, HOXC13, S100A3) with potential for early diagnosis and better understanding of the disease's biological mechanisms.

AUC and APL are distinct conditions needing careful clinical assessment.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This review discusses insights into the role of lipase H in controlling hair form and texture, emphasizing genetic mutations linked to autosomal recessive woolly hair/hypotrichosis, and reports no new experimental results.

This case study of a subfertile couple highlighted the importance of considering haemochromatosis, particularly involving the C282Y mutation of the HFE gene, in patients with endocrine disorders linked to hypogonadism.

This source discusses ichthyosis, a disorder causing dry, scaly skin, by exploring its genetic causes, potential systemic associations, and treatments, and correlates modern medical insights with Unani medicine principles focused on humoral balance and holistic care.

This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.

This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.

This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.

This study found that miRNAs increase and target mRNAs and lncRNAs decrease from the anagen to telogen phase in mouse hair follicles, and these ceRNA networks may play a role in hair follicle cycling.

This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.

This study investigated how secretions from cultured human hair follicle-derived keratinocytes affect gene expression in human follicle dermal papilla cells to understand their signaling interactions.

This report presents a case of IFAP syndrome with the typical symptoms of alopecia universalis, severe photophobia, and follicular ichthyosis, but provides no additional clinical findings or conclusions.

This review outlines the various fibroblast subsets in the skin dermis, their origins, and their influence on epidermal stem cell behavior, highlighting the role of the local dermal niche in stem cell plasticity.

This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.

This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.