Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

This case report suggests that Roux-en-Y gastric bypass may improve symptoms of non-classic adrenal hyperplasia related to 11-hydroxylase deficiency by reducing insulin resistance.

This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.

This study found that intrathymic injection of recipient-type splenocytes into donor rats, combined with antilymphocyte antiserum, effectively prevented graft-versus-host disease for up to 300 days.

This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.

In this study, researchers found that a positive feedback loop involving Ca 2+ and RHD2 NADPH oxidase-derived ROS helps maintain growth sites, crucial for root hair development and cell shape in Arabidopsis thaliana.

This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

This study found that the small signaling peptide RALF22 plays a key role in root hair growth response to volatile compounds emitted by Penicillium aurantiogriseum through ethylene, auxin, and photosynthesis signaling in Arabidopsis.

This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.

This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.

This study evaluated the real-world use of ritlecitinib for severe alopecia areata in the UK, reporting that 37% of patients achieved significant hair regrowth by week 36, with no serious adverse effects noted, although response varied with disease duration.

This study found that a positive feedback loop involving RHD2, reactive oxygen species, and calcium ions helps maintain root hair growth sites and influences cell shape in Arabidopsis thaliana.

This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.

This study reports that ritlecitinib was prescribed to a diverse group of patients, including adolescents and adults with and without prior treatment for Alopecia Areata, in the first three months after FDA approval, potentially expanding care options for this condition.

This study reports an improvement in lymphomatoid papulosis type A in a 52-year-old patient who concurrently used hormone-replacement therapy.

Certain immune cells in atopic dermatitis skin could be targeted for treatment.

This study found that RANKL signaling enhances CD8+ T cell-mediated anti-viral immunity during herpes simplex virus infection by preventing apoptosis of Langerhans cells, suggesting potential therapeutic applications.

This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.

In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.

This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.