research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
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750-780 / 1000+ resultsresearch Thrombospondin-1 Plays a Critical Role in the Induction of Hair Follicle Involution and Vascular Regression During the Catagen Phase
Thrombospondin-1 is crucial for hair follicle regression and reduced blood vessel growth during the catagen phase.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Message of protease nexin-1 is expressed in human dermal papilla cells and is affected by androgen
Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
research 318 The Wnt-inhibitor Dkk4 is required for primary hair follicle induction and patterning
Dkk4 protein is necessary for the proper development and arrangement of hair follicles.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Abnormal gene expression related to keratin causes hair loss in certain mice.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research PBX1 Attenuates Hair Follicle-Derived Mesenchymal Stem Cell Senescence and Apoptosis by Alleviating Reactive Oxygen Species-Mediated DNA Damage Instead of Enhancing DNA Damage Repair
PBX1 helps reduce aging and cell death in hair follicle stem cells by decreasing DNA damage, not by improving DNA repair.
research Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?
Identical p53 gene mutations in different cancers suggest the need for careful treatment.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin‐1 (PN‐1) inhibition
CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
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 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 Miz1 is required for hair follicle structure and hair morphogenesis
Miz1 is essential for proper hair structure and growth.
research Regulation of Hematopoietic Cell Development and Hair Growth in Mouse Models: Expression Analysis of Tudor-SN and Polyamine-Regulated Proteins
Tudor-SN is important for immune cells, and polyamines can promote hair growth.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Generation of the Krt24-CreERT2 Mouse Line Targeting Outer Bulge Hair Follicle Cells
The study created a mouse model to better understand hair follicle stem cells' role in hair growth and repair.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Akt2 and SGK3 are both determinants of postnatal hair follicle development
Akt2 and SGK3 are both important for normal hair growth and development.
research The G-Protein Couple Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Foxc1 reinforces quiescence in self-renewing hair follicle stem cells
Foxc1 helps keep hair follicle stem cells inactive, preventing hair loss.
research 0882 Patterning and regional specification of hairy skin
Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.