research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
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720-750 / 1000+ results research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Potential genetic associations of acne scar phenotypes: IL1A in fibrotic scarring and CYB5R1 in atrophic scarring
CYB5R1 and IL1A genes may be linked to different types of acne scars.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep that affect traits like milk production, growth, and health.
research CCL 27 level in patient with alopecia areata
CCL 27 levels are similar in people with and without alopecia areata.
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats
Cashmere quality differences are due to gene expression variations affecting hair development and adaptation to cold.
research Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans
Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Gene that causes woolly hair revealed
Mutations in the P2RY5 gene cause hereditary woolly hair.
research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia
The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Cyclin-dependent kinase inhibitors, p21waf1/cip1 and p27kip1, are expressed site- and hair cycle-dependently in rat hair follicles
p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research 1379 Cyclosporin A suppresses TGF-β2 expression via calcineurin/NFAT pathway in human dermal papilla cells
Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research NonClassic Congenital Adrenal Hyperplasia
NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
research Inhibiting the cytosolic function of CXXC5 accelerates diabetic wound healing by enhancing angiogenesis and skin repair
Blocking CXXC5 speeds up diabetic wound healing by improving blood vessel growth and skin repair.
research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.