Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 2
2021 12
2022 14
2023 6
2024 7
2025 10
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

44 results

Results by year

Filters applied: . Clear all
Page 1
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Paller AS, Teng J, Mazereeuw-Hautier J, Hernández-Martín Á, Granier Tournier C, Hovnanian A, Aldwin-Easton M, Tadini G, Schwartz J, Sprecher E, Malovitski K, Ishida-Yamamoto A, Choate K, Akiyama M, O'Toole EA, Fischer J, Bodemer C, Gostynski A, Schmuth M. Paller AS, et al. Br J Dermatol. 2025 Sep 18;193(4):592-618. doi: 10.1093/bjd/ljaf123. Br J Dermatol. 2025. PMID: 40184496 Review.
All sEDDs are rare; the most common are STS-sEDD (formerly known as X-linked ichthyosis) and SPINK5-sEDD (formerly known as Netherton syndrome). Given the rarity, frequent association with early demise and variable clinical features of sEDDs, the natural history of the dis …
All sEDDs are rare; the most common are STS-sEDD (formerly known as X-linked ichthyosis) and SPINK5-sEDD (formerly known as Netherton …
SPINK5 is a Tumor-Suppressor Gene Involved in the Progression of Nonsmall Cell Lung Carcinoma through Negatively Regulating PSIP1.
Zhang J, Rong J, Ge W, Wang J, Wang W, Chi H. Zhang J, et al. J Healthc Eng. 2022 Mar 25;2022:2209979. doi: 10.1155/2022/2209979. eCollection 2022. J Healthc Eng. 2022. Retraction in: J Healthc Eng. 2023 Aug 2;2023:9852373. doi: 10.1155/2023/9852373. PMID: 35368958 Free PMC article. Retracted.
This study aimed to elucidate how SPINK5 affects the malignant phenotypes of NSCLC and the molecular mechanism. NSCLC and adjacent normal tissues were collected to detect the differential level of SPINK5. The influence of SPINK5 on pathological indicators of …
This study aimed to elucidate how SPINK5 affects the malignant phenotypes of NSCLC and the molecular mechanism. NSCLC and adjacent no …
Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.
Fozia F, Nazli R, Alam Khan S, Bari A, Nasir A, Ullah R, Mahmood HM, Sohaib M, Alobaid A, Ansari SA, Basit S, Khan S. Fozia F, et al. Genes (Basel). 2021 Mar 5;12(3):373. doi: 10.3390/genes12030373. Genes (Basel). 2021. PMID: 33807935 Free PMC article.
RESULTS: Total four variants including, two splice site (TGM1: c.2088 + 1G > A) and (SPINK5: c.882 + 1G > T), a missense (SULT2B1: c.419C > T; p. Ala140Val), and a nonsense (FLG: c.6109C > T; p. ...CONCLUSION: Our study unravels the molecular etiology of the fo …
RESULTS: Total four variants including, two splice site (TGM1: c.2088 + 1G > A) and (SPINK5: c.882 + 1G > T), a missense (SULT2 …
Genetic variants affecting chemical mediated skin immunotoxicity.
Rodrigues de Souza I, Savio de Araujo-Souza P, Morais Leme D. Rodrigues de Souza I, et al. J Toxicol Environ Health B Crit Rev. 2022 Feb 17;25(2):43-95. doi: 10.1080/10937404.2021.2013372. Epub 2022 Jan 3. J Toxicol Environ Health B Crit Rev. 2022. PMID: 34979876 Review.
The polymorphisms selected for this review are related to xenobiotic-metabolizing enzymes (CYPA1 and CYPB1 genes), antioxidant defense (GSTM1, GSTT1, and GSTP1 genes), aryl hydrocarbon receptor signaling pathway (AHR and ARNT genes), skin barrier function transepidermal water los …
The polymorphisms selected for this review are related to xenobiotic-metabolizing enzymes (CYPA1 and CYPB1 genes), antioxidant defense (GSTM …
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D, Borg I, Vornweg J, Mercieca L, Merdzanic R, Numrich J, Aquilina S, Pace NP, Fischer J. Mintoff D, et al. Mol Genet Genomic Med. 2021 Mar;9(3):e1611. doi: 10.1002/mgg3.1611. Epub 2021 Feb 3. Mol Genet Genomic Med. 2021. PMID: 33534181 Free PMC article.
BACKGROUND: Netherton syndrome (NS) is a genodermatosis caused by loss-of-function mutations in SPINK5, resulting in aberrant LEKTI expression. METHOD: Next-generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional studies were performed by imm …
BACKGROUND: Netherton syndrome (NS) is a genodermatosis caused by loss-of-function mutations in SPINK5, resulting in aberrant LEKTI e …
Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis.
Ravindran A, Holappa L, Niskanen H, Skovorodkin I, Kaisto S, Beter M, Kiema M, Selvarajan I, Nurminen V, Aavik E, Aherrahrou R, Pasonen-Seppänen S, Fortino V, Laakkonen JP, Ylä-Herttuala S, Vainio S, Örd T, Kaikkonen MU. Ravindran A, et al. Cardiovasc Res. 2024 Jul 2;120(8):869-882. doi: 10.1093/cvr/cvae028. Cardiovasc Res. 2024. PMID: 38289873 Free PMC article.
Moreover, we identified several novel genes not previously linked to SMCs in atherosclerosis, such as Anxa4, Cd276, inter-alpha-trypsin inhibitor-4 (Itih4), Myof, Pcdh11x, Rab31, Serpinb6b, Slc35e4, Slc8a3, and Spink5. Among them, we confirmed the SMC-specific expression o …
Moreover, we identified several novel genes not previously linked to SMCs in atherosclerosis, such as Anxa4, Cd276, inter-alpha-trypsin inhi …
Ustekinumab therapy for Netherton syndrome.
Samuelov L, Shehadeh W, Sarig O, Gat A, Matz H, Sprecher E. Samuelov L, et al. J Dermatol. 2023 Apr;50(4):494-499. doi: 10.1111/1346-8138.16645. Epub 2022 Nov 23. J Dermatol. 2023. PMID: 36419401
It is caused by bi-allelic mutations in SPINK5 encoding the serine protease inhibitor LEKTI. Previous studies have shown Th17 skewing with IL-23 upregulation in NS, raising the possibility that targeting these inflammatory pathways may alleviate disease manifestations. ...
It is caused by bi-allelic mutations in SPINK5 encoding the serine protease inhibitor LEKTI. Previous studies have shown Th17 skewing …
Inhibition of the Tumor Suppressor Gene SPINK5 via EHMT2 Induces the Oral Squamous Cell Carcinoma Development.
Sun S, Su G, Zheng X. Sun S, et al. Mol Biotechnol. 2024 Feb;66(2):208-221. doi: 10.1007/s12033-023-00740-z. Epub 2023 Apr 18. Mol Biotechnol. 2024. PMID: 37071303
Using the Gene Expression Omnibus database, we identified SPINK5 as a significantly downregulated gene in OSCC tissues. Moreover, SPINK5 inhibited the malignant aggressiveness of HSC3 and squamous cell carcinomas (SCC)9 cells, whereas depletion of SPINK5 usin …
Using the Gene Expression Omnibus database, we identified SPINK5 as a significantly downregulated gene in OSCC tissues. Moreover, …
Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.
Clark LN, Gao Y, Wang GT, Hernandez N, Ashley-Koch A, Jankovic J, Ottman R, Leal SM, Rodriguez SMB, Louis ED. Clark LN, et al. EBioMedicine. 2022 Nov;85:104290. doi: 10.1016/j.ebiom.2022.104290. Epub 2022 Sep 29. EBioMedicine. 2022. PMID: 36183486 Free PMC article.
These genes include TUBB2A, VPS33B, STEAP1B, SPINK5, ZRANB1, TBC1D3C, PDPR, NPY4R, ETS2, ZNF736, SPATA21, ARL17A, PZP, BLK and CCDC94. ...
These genes include TUBB2A, VPS33B, STEAP1B, SPINK5, ZRANB1, TBC1D3C, PDPR, NPY4R, ETS2, ZNF736, SPATA21, ARL17A, PZP, BLK and CCDC94 …
Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Nartisa I, Kirsteina R, Neiburga KD, Zigure S, Ozola L, Grantina I, Micule I, Murmane D, Slisere B, Gailite L, Vilne B, Rots D, Taurina G, Kurjane N. Nartisa I, et al. Pediatr Allergy Immunol. 2023 Apr;34(4):e13937. doi: 10.1111/pai.13937. Pediatr Allergy Immunol. 2023. PMID: 37102386
It is caused by biallelic loss-of-function variants in the SPINK5 gene, encoding the protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI). MATERIAL, METHODS AND RESULTS: Here, we describe NS clinical and genetic features of homogenous patient group: 9 i …
It is caused by biallelic loss-of-function variants in the SPINK5 gene, encoding the protease inhibitor lymphoepithelial Kazal-type-r …
44 results