research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
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840-870 / 1000+ resultsresearch Mettl3-catalyzed m 6 A regulates histone modifier and modification expression in self-renewing somatic tissue
Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Natural Sweetener Stevioside‐Based Dissolving Microneedles Solubilize Minoxidil for the Treatment of Androgenic Alopecia
Stevioside-based microneedles improve minoxidil delivery and hair growth for treating hair loss.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research Correlation Analysis of CXCL10, FOS, HOXC13, and WNT4 Gene Polymorphisms with Key Economic Traits—Initial Population Screening for Jiangnan Cashmere Goats
Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
research Methotrexate-associated lymphoproliferative disorder: Sequential development of angioimmunoblastic T-cell lymphoma-like lymphoproliferation in the lymph nodes and diffuse large B-cell lymphoma in the skin in the same patient
Stopping methotrexate might reverse lymphoma-like conditions in some patients.
research Single‐Cell RNA Sequencing Highlights a Contribution of Human Amniotic Mesenchymal Stem Cells‐Derived Exosomes to Androgenetic Alopecia
Human amniotic stem cell exosomes may effectively treat hair loss by promoting hair regrowth.
research Studying the genetic predisposing factors in the pathogenesis of acne vulgaris
Genetics play a role in acne, but how exactly they contribute is not fully understood.
research Critical Role of ATP-P2X7 Axis in UV-Induced Melanogenesis
ATP increases melanin production in skin after UV exposure, with the P2X7 receptor being crucial for this process.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Sox13 is a novel early marker for hair follicle development
Sox13 is a useful marker for early hair follicle development but not essential for hair growth.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles
A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
research Melanocyte stem cells in the skin: Origin, biological characteristics, homeostatic maintenance and therapeutic potential
Melanocyte stem cells are vital for skin and hair color and have potential in treating skin disorders and cancer.
research Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma
Some children with localized scleroderma are rarely resistant to methotrexate, and no common profile for resistance was found.
research The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
research <i>In-Vitro</i> Effect of Sex Steroids on Mouse Melanoma (B16F10) Cell Growth
Sex steroids, especially progesterone, can slow down the growth of mouse melanoma cells.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism*
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Bone morphogenetic protein (BMP) signaling controls hair pigmentation by means of cross-talk with the melanocortin receptor-1 pathway
BMP signaling affects hair color by interacting with the MC-1R pathway.