research Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
Basal cell carcinomas need extra mutations to grow from small to large tumors.
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research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Reversible Activation of c-Myc in Skin
Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Abstract 3889: Cyclin-dependent kinase 4 levels affect the number of hair follicle stem cells in mouse epidermis
CDK4 levels affect the number of hair follicle stem cells in mice.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research L-Cystine-Containing Hair-Growth Formulation Supports Protection, Viability, and Proliferation of Keratinocytes
The hair-growth formula with L-cystine helps protect and grow hair cells.
research 332 OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity
ILC1-like cells can cause alopecia areata by affecting hair follicles.
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 BH16 Central centrifugal cicatricial alopecia and fibroproliferative disorders: exploring the association with uterine leiomyomas
Black women with CCCA are more likely to have uterine fibroids.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Association analysis of polymorphisms in six keratin genes with wool traits in sheep
Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
research Tissue regenerative delays and synthetic lethality in adult mice after combined deletion of Atr and Trp53
Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.