research Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment.
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
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research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Comparative gene expression analysis of nestin-expressing hair follicle-derived cells
The study investigates the gene expression profiles of nestin-expressing hair follicle-derived cells (NHFCs) and compares them to other stem/progenitor cell systems. NHFCs show significantly higher levels of neurotrophic factors like Bdnf, Ngf, and Vegf, suggesting strong neuroprotective properties. They also exhibit a unique expression pattern of neural differentiation markers, with lower Nes and higher Tubb3 levels, indicating a tendency towards neuronal maturation. The presence of both neuronal and glial markers highlights NHFCs' distinct differentiation potential, positioning them as promising candidates for neuroregenerative therapies and regenerative medicine.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Follicular Unit Coupling—The Role of Slot Grafting in Hair Transplantation
Slot grafting can improve hair transplantation results.
research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas
Basal cell carcinomas and squamous cell carcinomas have different gene activity patterns, suggesting unique treatment approaches.
research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.
research 1376 A multi-scale spatial atlas of human skin links cancer cell states to site of origin
The research shows that skin cancer likely originates from hair follicles and that certain cell populations expand to promote skin cancer growth.
research Connexin 30, a new marker of hyperproliferative epidermis
Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.
research Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia
Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target during Hair Follicle and Nail Differentiation
HOXC13 is essential for hair and nail development by regulating Foxn1.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome
PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
research Human placental mesenchymal stromal cell‐derived exosome‐enriched extracellular vesicles for chronic cutaneous graft‐versus‐host disease: A case report
Exosome-enriched vesicles from placental cells improved skin condition in a patient with chronic graft-versus-host disease.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Genome-wide detection and sequence conservation analysis of long non-coding RNA during hair follicle cycle of yak
Different long non-coding RNAs in yaks change during hair growth cycles and are involved in key growth pathways.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Recurrent inverse necrotizing infundibular crystalline folliculitis
Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.