research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
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30 / 1000+ resultsresearch A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control Families
This study found evidence suggesting a potential genetic link between polycystic ovaries and premature male pattern baldness through screening of first-degree relatives of women with polycystic ovary syndrome.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
This report describes a Danish family with autosomal dominant hypotrichosis, where affected members experienced gradual diffuse hair loss leading to near-total scalp alopecia by ages 14-21.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Topical fluocinolone acetonide acetate ointment in autosomal dominant congenital hypotrichosis
In this case report, topical application of fluocinolone acetonide acetate ointment increased hair length and thickness in three family members with congenital hypotrichosis.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Androgenetic alopecia: An autosomal dominant disorder
Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
research Interventions for preventing the progression of autosomal dominant polycystic kidney disease
This review found that Tolvaptan is the only drug shown to slow the progression of autosomal dominant polycystic kidney disease, but it does not affect mortality or kidney failure outcomes.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
This study reported that 19 out of 29 examined individuals from a family spanning seven generations exhibited the distinctive symptoms of hypotrichosis congenita hereditaria Marie Unna type.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
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.
research The inheritance of common baldness: Two B or not two B ?
This study presents evidence suggesting that androgenetic alopecia is most likely inherited through a polygenic model, challenging the traditional view that it is caused by a simple Mendelian autosomal dominant gene.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.