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research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

2 citations , January 2024 in “Revista Paulista de Pediatria”

This case report describes a 6-year-old girl with a severe phenotype of mandibuloacral dysplasia type A (MADA) linked to a rare homozygous LMNA missense mutation (c.1579C>T). The patient exhibited subtotal alopecia, distinct craniofacial features, generalized lipodystrophy, joint stiffness, and significant bone and skin abnormalities. Radiological findings included severe bone dysplasia and osteopenia. MADA, an autosomal recessive disorder, typically results from the p.R527H mutation in the LMNA gene, but this case involves the rare p.R527C mutation, marking the sixth family reported with this mutation.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

39 citations , January 2019 in “Cells”

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

research Syndromes of Severe Insulin Resistance (SSIRs)

November 2004

The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.

research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

475 citations , October 2006 in “Proceedings of the National Academy of Sciences”

Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.

research Extracellular vesicles in age-related diseases: disease pathogenesis, intervention, and biomarker

9 citations , May 2025 in “Stem Cell Research & Therapy”

Extracellular vesicles can both worsen and help treat age-related diseases and are useful for early diagnosis.

research Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis

29 citations , January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology”

P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.

research miR-3606-3p alleviates skin fibrosis by integratively suppressing the integrin/FAK, p-AKT/p-ERK, and TGF-β signaling cascades

15 citations , November 2024 in “Journal of Advanced Research”

miR-3606-3p reduces skin fibrosis by blocking key signaling pathways.

The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle

research The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle

15 citations , February 2015 in “Cell & tissue research/Cell and tissue research”

P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.

research P‐30  Use of fipronil for treatment of Lynxacarus radovskyi in outdoor cats in Rio de Janeiro (Brazil)

12 citations , August 2004 in “Veterinary Dermatology”

Fipronil effectively treats Lynxacarus radovskyi in outdoor cats.

research Fetal wound healing using a genetically modified murine model: the contribution of P-selectin

10 citations , April 2008 in “Journal of Pediatric Surgery”

P-selectin is not the only factor that prevents scarring in fetal wound healing in mice.

research Accumulations of Ca/P in the core of hairs from Taklamakan desert mummies

8 citations , May 2008 in “Applied surface science”

Mummy hair from the Taklamakan desert has calcium and phosphorus inside.

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.

research Regulation of immune response genes in the skin of allergic and clinically tolerant individuals exposed to p‐phenylenediamine

4 citations , January 2024 in “Allergy”

Everyone has an immune response to PPD, but reactions differ, causing tolerance, mild inflammation, or allergy.

research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

4 citations , January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5

3 citations , January 2019 in “Journal of Dermatology”

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

research P‐79  Hair follicle growth arrest in Austrian Icelandic horses

3 citations , August 2004 in “Veterinary Dermatology”

Supplementing vitamins and minerals prevented hair loss in Icelandic horses.

research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers

2 citations , June 2013 in “Journal of Clinical Pathology”

The LMNA mutation affects skin structure even in asymptomatic carriers.

research P‐35  Nonlethal junctional epidermolysis bullosa in a dog

2 citations , August 2004 in “Veterinary Dermatology”

A dog with a hereditary skin condition causing blisters and hair loss survived for a year.

research A bio-polymeric scaffold incorporated with p-Coumaric acid enhances diabetic wound healing by modulating MMP-9 and TGF-β3 expression

1 citations , March 2023 in “Colloids and surfaces. B, Biointerfaces”

A new wound dressing with p-Coumaric acid helps heal diabetic wounds faster by reducing inflammation and promoting skin repair.

research 608 A clinical study to test the efficacy of VB1953 in clindamycin non-responder acne patients with antibiotic-resistant P. acnes

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

VB1953 gel significantly reduced acne and resistant bacteria in patients who didn't respond to clindamycin.

research FINASTERIDE INFLUENCE ON P-GLYCOPROTEIN FUNCTIONAL ACTIVITY

1 citations , December 2012 in “I P Pavlov Russian Medical Biological Herald”

Finasteride increases P-glycoprotein activity in the liver and kidney.

The Expression of Phosphorus-Responsive Genes Is Related to Root Hair Growth

research The Expression of P-Responsive Genes is Related to Root Hair Growth

1 citations , April 2009 in “The Proceedings of the International Plant Nutrition Colloquium XVI”

Certain genes may promote longer root hairs in plants when phosphorus is low.

research P-Phenylenediamine-Induced Angioedema-like Facies: A Case Report and Review of Pathomechanisms

March 2026 in “Indian Dermatology Online Journal”

Hair dye ingredient PPD can cause severe allergic reactions, including facial swelling.

research The Rho GTPase regulator ARHGEF3 orchestrates hair placode budding by coordinating cell fate and P-cadherin patterning in mice

January 2026 in “PLoS Biology”

ARHGEF3 is essential for proper hair follicle development in mice.

research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA

January 2026 in “JCEM Case Reports”

Genetics may play a significant role in gender dysphoria.

research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA

January 2026 in “JCEM Case Reports”

A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.

research P.08: Development of dissolving microneedles containing finasteride with improved permeability and bioavailability.

October 2025 in “Transplantation”

Dissolving microneedles with finasteride improve drug delivery for hair loss treatment.

research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS

January 2025 in “JCEM Case Reports”

Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.

research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT

January 2025 in “JCEM Case Reports”

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.