Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

This study demonstrated that blocking the Sonic hedgehog signaling pathway in mice led to reversible inhibition of body coat hair morphogenesis, while whisker development was unaffected.

This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.

This study reports a rare case of polyorchidism in a 96-year-old male cadaver, suggesting a new classification based on anatomical and histological findings to aid in accurate diagnosis.

This article discusses the rising prevalence and serious implications of childhood obesity and reports no new experimental findings; the authors emphasize the importance of prevention and early intervention through comprehensive management programs.

This review summarizes the roles of bone morphogenetic proteins in the development and regulation of normal and diseased skin, but it does not provide new clinical results.

This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.

This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.

This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.

This review covers the recent advances in understanding how Turing models may explain various morphogenetic processes, but it reports no new experimental findings.

The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.

This review provides an overview of the prevalence and management of side effects of mood-stabilizing drugs in bipolar disorder patients and reports no new clinical results.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.

This review examines the roles of Hedgehog and Gli proteins in mouse embryonic mammary development and suggests that Gli3-repressor-mediated off-state of Hedgehog signaling determines mammary fate over hair follicle fate.

This review examines the role of hormones in acne pathogenesis, the use of hormonal therapies for treatment, and the importance of contraceptive counseling during isotretinoin therapy, but reports no new clinical results.

This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.

This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.

This study observed that patients with COVID-19 had many conditions and phenotypes that increased post-infection, varying by demographics and infection wave, which could enhance understanding and diagnostics of Long-COVID.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.

This article discusses the importance of interpreting laboratory data and performing physical assessments to support pharmacists in clinical decision-making and patient consultations, but reports no new empirical findings.

This study reports the first documentation of mural, mucinotic, isthmus folliculitis alopecia in Norwegian puffin dogs, noting that ciclosporin treatment led to remission while other treatments were less effective.

This review describes nail changes linked to various non-infectious skin diseases, highlighting how these alterations can help diagnose and manage conditions like psoriasis and lupus by noting specific and overlapping nail characteristics.

This review examines the impact of biotin, vitamin B12, and zinc on male reproduction, emphasizing their role in spermatogenic failure, but reports no new clinical results.

Men with a certain type of hair loss often use facial moisturizers, and a specific antibiotic treatment may help another hair condition.