Search

for
Search:

Sort by

Research

150-180 / 1000+ results

research The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)

17 citations , August 2018 in “BMC Genomics”

The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.

A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets

October 2024 in “Journal of the Endocrine Society”

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

2 citations , April 2008 in “PubMed”

A gene mutation causes monilethrix in a Chinese family.

Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 in a Growth- and Stress-Dependent Fashion

research Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 (RSK1) in a Growth- and Stress-dependent Fashion

30 citations , December 2011 in “Journal of biological chemistry/The Journal of biological chemistry”

Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.

research Cellular localization of retinoic acid receptor-gamma expression in normal and neoplastic skin.

23 citations , June 1992 in “PubMed”

RAR-gamma 1 is important for normal skin maintenance and differentiation.

research Keratin 17 modulates hair follicle cycling in a TNFα-dependent fashion

169 citations , May 2006 in “Genes & Development”

Keratin 17 is crucial for normal hair growth by regulating hair cycle transitions with TNFα.

research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

November 2024

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer

2 citations , October 2023 in “Cancer Reports”

Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.

research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells

1 citations , September 2019 in “Journal of Investigative Dermatology”

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

9 citations , April 2020 in “Journal of dermatology”

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report

July 2025 in “Frontiers in Medicine”

Mutations in the LIPH gene cause woolly hair in a child.

research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

210 citations , February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

34 citations , November 1998 in “Journal of Investigative Dermatology”

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

1 citations , December 2018 in “Journal of genetic medicine”

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins

11 citations , January 1997 in “Journal of Dermatological Science”

A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.

research Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2

29 citations , June 2016 in “Experimental Dermatology”

MCHR2 gene duplications may be linked to alopecia areata.

Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker

research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A33:01 ; B14:02; C*08:02 as a genetic marker

7 citations , January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

Efficient Genome Editing Using CRISPR/Cas9 Ribonucleoprotein Approach in iPS Cells for Recessive Dystrophic Epidermolysis Bullosa

research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa

April 2019 in “Journal of Investigative Dermatology”

Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.

research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy

April 2026 in “Cureus”

A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.

research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis

11 citations , April 2012 in “Journal of Investigative Dermatology”

A specific mutation in PA-PLA1α causes abnormal hair growth.

research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene

94 citations , April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

research Class IIa HDAC4 and HDAC7 cooperatively regulate gene transcription in Th17 cell differentiation

16 citations , April 2024 in “Proceedings of the National Academy of Sciences”

HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.

research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

78 citations , May 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes woolly hair and hair loss.

research Pachyonychia congenita: Sporadic onset with mutation analysis

January 2023 in “Indian dermatology online journal”

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets