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.
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810-840 / 1000+ resultsresearch The roles of collagen XVIII and its endostatin domain in wound healing, hair follicle cycling and bone development
Collagen XVIII affects wound healing, hair growth, and bone development, with its absence speeding up processes and overexpression causing delays and abnormalities.
research Modelling androgen synthesis and action during human sexual differentiation
Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research ASH2L mediates epidermal differentiation and hair follicle morphogenesis via H3K4me3 modification
ASH2L is essential for skin and hair development.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Comparative study of the efficacy and safety of topical minoxidil 2% versus topical bimatoprost 0.01% versus topical bimatoprost 0.03% in treatment of eyebrow hypotrichosis: a randomized controlled trial
Bimatoprost 0.03% is as effective as minoxidil 2% for eyebrow growth.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
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 Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Fgf21 Deficiency Delays Hair Follicle Cycling and Modulates miRNA–Target Gene Interactions in Mice
Lack of Fgf21 slows hair growth by affecting gene interactions.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Inhibition of Bmp signaling affects growth and differentiation in the anagen hair follicle
Inhibiting Bmp signaling disrupts hair growth and differentiation.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Delayed Puberty
Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
research Epimorphin expression during human foetal hair follicle development
Epimorphin, a protein, plays a key role in the development of hair follicles in human fetuses, but it doesn't help in maintaining the stem cell population of the follicular skin layer.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Follicular dysplasia in two cows
Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
research Osseous Metaplasia and Mature Bone Formation With Extramedullary Hematopoiesis in Trichilemmal Cyst
Ossification in trichilemmal cysts is more common than previously believed.
research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Review of Keratin Disorders
Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.