Variants in nuclear factor I genes influence growth and development Article Swipe
Martin Zenker
,
Jens Bunt
,
Ina Schanze
,
Denny Schanze
,
Michael Piper
,
Manuela Priolo
,
Erica H. Gerkes
,
Richard M. Gronostajski
,
Linda J. Richards
,
Julie Vogt
,
Marja W. Wessels
,
Raoul C. M. Hennekam
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.c.31747
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.c.31747
The nuclear factor one (NFI) site‐specific DNA‐binding proteins represent a family of transcription factors that are important for the development of multiple organ systems, including the brain. During brain development in mice, the expression patterns of Nfia , Nfib , and Nfix overlap, and knockout mice for each of these exhibit overlapping brain defects, including megalencephaly, dysgenesis of the corpus callosum, and enlarged ventricles, which implies a common but not redundant function in brain development. In line with these models, human phenotypes caused by haploinsufficiency of NFIA , NFIB , and NFIX display significant overlap, sharing neurodevelopmental deficits, macrocephaly, brain anomalies, and variable somatic overgrowth. Other anomalies may be present depending on the NFI gene involved. The possibility of variants in NFI genes should therefore be considered in individuals with intellectual disability and brain overgrowth, with individual NFI‐related conditions being differentiated from one another by additional signs and symptoms. The exception is provided by specific NFIX variants that act in a dominant negative manner, as these cause a recognizable entity with more severe cognitive impairment and marked bone dysplasia, Marshall–Smith syndrome. NFIX duplications are associated with a phenotype opposite to that of haploinsufficiency, characterized by short stature, small head circumference, and delayed bone age. The spectrum of NFI‐related disorders will likely be further expanded, as larger cohorts are assessed.
Related Topics
Concepts
Haploinsufficiency
Macrocephaly
Phenotype
Biology
Genetics
Corpus callosum
Dysgenesis
Short stature
Dysplasia
Neuroscience
Gene
Endocrinology
Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.c.31747
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31747
- OA Status
- bronze
- Cited By
- 52
- References
- 113
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2986905515
All OpenAlex metadata
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https://openalex.org/W2986905515Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/ajmg.c.31747Digital Object Identifier
- Title
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Variants in nuclear factor I genes influence growth and developmentWork title
- Type
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reviewOpenAlex work type
- Language
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enPrimary language
- Publication year
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2019Year of publication
- Publication date
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2019-11-15Full publication date if available
- Authors
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Martin Zenker, Jens Bunt, Ina Schanze, Denny Schanze, Michael Piper, Manuela Priolo, Erica H. Gerkes, Richard M. Gronostajski, Linda J. Richards, Julie Vogt, Marja W. Wessels, Raoul C. M. HennekamList of authors in order
- Landing page
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https://doi.org/10.1002/ajmg.c.31747Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31747Direct link to full text PDF
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YesWhether a free full text is available
- OA status
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bronzeOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31747Direct OA link when available
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Haploinsufficiency, Macrocephaly, Phenotype, Biology, Genetics, Corpus callosum, Dysgenesis, Short stature, Dysplasia, Neuroscience, Gene, EndocrinologyTop concepts (fields/topics) attached by OpenAlex
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52Total citation count in OpenAlex
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2025: 8, 2024: 10, 2023: 16, 2022: 8, 2021: 6Per-year citation counts (last 5 years)
- References (count)
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113Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| referenced_works | https://openalex.org/W2895431458, https://openalex.org/W2128376649, https://openalex.org/W2004773203, https://openalex.org/W2022880602, https://openalex.org/W1921704775, https://openalex.org/W2015152874, https://openalex.org/W2035416523, https://openalex.org/W2109181132, https://openalex.org/W921871570, https://openalex.org/W2769264909, https://openalex.org/W2092041178, https://openalex.org/W2120706598, https://openalex.org/W2038181219, https://openalex.org/W2134112039, https://openalex.org/W2122028718, https://openalex.org/W2105320166, https://openalex.org/W2596399728, https://openalex.org/W2759847459, https://openalex.org/W2005806113, https://openalex.org/W2141627956, https://openalex.org/W2051655214, https://openalex.org/W2461903592, https://openalex.org/W2059320006, https://openalex.org/W2009999837, https://openalex.org/W2579473958, https://openalex.org/W2574813995, https://openalex.org/W2095640396, https://openalex.org/W2902481411, https://openalex.org/W2557064882, https://openalex.org/W2019231810, https://openalex.org/W2754738019, https://openalex.org/W2044510301, https://openalex.org/W2531282913, https://openalex.org/W2125012054, https://openalex.org/W1750014769, https://openalex.org/W4232292292, https://openalex.org/W1982105116, https://openalex.org/W1553965282, https://openalex.org/W2785836753, https://openalex.org/W2579434538, https://openalex.org/W2117302968, https://openalex.org/W2041185099, https://openalex.org/W2749819821, https://openalex.org/W2520442529, https://openalex.org/W2154037241, https://openalex.org/W2085198610, https://openalex.org/W2009521014, https://openalex.org/W2026690931, https://openalex.org/W2072182588, https://openalex.org/W2003082114, https://openalex.org/W2020158301, https://openalex.org/W1546528060, https://openalex.org/W2070690231, https://openalex.org/W2058102300, https://openalex.org/W2300550466, https://openalex.org/W2142932563, https://openalex.org/W1972835861, https://openalex.org/W2046342087, https://openalex.org/W2290524938, https://openalex.org/W2035892299, https://openalex.org/W2090263938, https://openalex.org/W2007943561, https://openalex.org/W2046095073, https://openalex.org/W2046622409, https://openalex.org/W2114955073, https://openalex.org/W2032588195, https://openalex.org/W2766440086, https://openalex.org/W2157569342, https://openalex.org/W2163361011, https://openalex.org/W2014760588, https://openalex.org/W2165903884, https://openalex.org/W1494621053, https://openalex.org/W1970234384, https://openalex.org/W2076718716, https://openalex.org/W1996710068, https://openalex.org/W2047835959, https://openalex.org/W2326381346, https://openalex.org/W2902600872, https://openalex.org/W1978246731, https://openalex.org/W2112282280, https://openalex.org/W2153840519, https://openalex.org/W2036754144, https://openalex.org/W2022722148, https://openalex.org/W2808057155, https://openalex.org/W2754850306, https://openalex.org/W2759758310, https://openalex.org/W2510075458, https://openalex.org/W2018458653, https://openalex.org/W2021891225, https://openalex.org/W1983512144, https://openalex.org/W2088487912, https://openalex.org/W2898850951, https://openalex.org/W2772746814, https://openalex.org/W1984612239, https://openalex.org/W2030938034, https://openalex.org/W2469912802, https://openalex.org/W2117344609, https://openalex.org/W2010879652, https://openalex.org/W2155943585, https://openalex.org/W2121678464, https://openalex.org/W2770866660, https://openalex.org/W1744126110, https://openalex.org/W2121462910, https://openalex.org/W2794459165, https://openalex.org/W288215449, https://openalex.org/W2077522329, https://openalex.org/W2095477656, https://openalex.org/W2095960047, https://openalex.org/W2122596225, https://openalex.org/W2527380636, https://openalex.org/W1975373361, https://openalex.org/W2885371842, https://openalex.org/W2128952304 |
| referenced_works_count | 113 |
| abstract_inverted_index., | 38, 40, 88, 90 |
| abstract_inverted_index.a | 10, 67, 161, 168, 187 |
| abstract_inverted_index.In | 76 |
| abstract_inverted_index.as | 165, 215 |
| abstract_inverted_index.be | 109, 126, 212 |
| abstract_inverted_index.by | 84, 145, 154, 195 |
| abstract_inverted_index.in | 31, 73, 121, 128, 160 |
| abstract_inverted_index.is | 152 |
| abstract_inverted_index.of | 12, 21, 36, 49, 58, 86, 119, 192, 207 |
| abstract_inverted_index.on | 112 |
| abstract_inverted_index.to | 190 |
| abstract_inverted_index.NFI | 114, 122 |
| abstract_inverted_index.The | 1, 117, 150, 205 |
| abstract_inverted_index.act | 159 |
| abstract_inverted_index.and | 41, 44, 62, 91, 102, 133, 148, 176, 201 |
| abstract_inverted_index.are | 16, 184, 218 |
| abstract_inverted_index.but | 69 |
| abstract_inverted_index.for | 18, 47 |
| abstract_inverted_index.may | 108 |
| abstract_inverted_index.not | 70 |
| abstract_inverted_index.one | 4, 143 |
| abstract_inverted_index.the | 19, 26, 33, 59, 113 |
| abstract_inverted_index.NFIA | 87 |
| abstract_inverted_index.NFIB | 89 |
| abstract_inverted_index.NFIX | 92, 156, 182 |
| abstract_inverted_index.Nfia | 37 |
| abstract_inverted_index.Nfib | 39 |
| abstract_inverted_index.Nfix | 42 |
| abstract_inverted_index.age. | 204 |
| abstract_inverted_index.bone | 178, 203 |
| abstract_inverted_index.each | 48 |
| abstract_inverted_index.from | 142 |
| abstract_inverted_index.gene | 115 |
| abstract_inverted_index.head | 199 |
| abstract_inverted_index.line | 77 |
| abstract_inverted_index.mice | 46 |
| abstract_inverted_index.more | 172 |
| abstract_inverted_index.that | 15, 158, 191 |
| abstract_inverted_index.will | 210 |
| abstract_inverted_index.with | 78, 130, 136, 171, 186 |
| abstract_inverted_index.(NFI) | 5 |
| abstract_inverted_index.Other | 106 |
| abstract_inverted_index.being | 140 |
| abstract_inverted_index.brain | 29, 53, 74, 100, 134 |
| abstract_inverted_index.cause | 167 |
| abstract_inverted_index.genes | 123 |
| abstract_inverted_index.human | 81 |
| abstract_inverted_index.mice, | 32 |
| abstract_inverted_index.organ | 23 |
| abstract_inverted_index.short | 196 |
| abstract_inverted_index.signs | 147 |
| abstract_inverted_index.small | 198 |
| abstract_inverted_index.these | 50, 79, 166 |
| abstract_inverted_index.which | 65 |
| abstract_inverted_index.During | 28 |
| abstract_inverted_index.brain. | 27 |
| abstract_inverted_index.caused | 83 |
| abstract_inverted_index.common | 68 |
| abstract_inverted_index.corpus | 60 |
| abstract_inverted_index.entity | 170 |
| abstract_inverted_index.factor | 3 |
| abstract_inverted_index.family | 11 |
| abstract_inverted_index.larger | 216 |
| abstract_inverted_index.likely | 211 |
| abstract_inverted_index.marked | 177 |
| abstract_inverted_index.severe | 173 |
| abstract_inverted_index.should | 124 |
| abstract_inverted_index.another | 144 |
| abstract_inverted_index.cohorts | 217 |
| abstract_inverted_index.delayed | 202 |
| abstract_inverted_index.display | 93 |
| abstract_inverted_index.exhibit | 51 |
| abstract_inverted_index.factors | 14 |
| abstract_inverted_index.further | 213 |
| abstract_inverted_index.implies | 66 |
| abstract_inverted_index.manner, | 164 |
| abstract_inverted_index.models, | 80 |
| abstract_inverted_index.nuclear | 2 |
| abstract_inverted_index.present | 110 |
| abstract_inverted_index.sharing | 96 |
| abstract_inverted_index.somatic | 104 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.defects, | 54 |
| abstract_inverted_index.dominant | 162 |
| abstract_inverted_index.enlarged | 63 |
| abstract_inverted_index.function | 72 |
| abstract_inverted_index.knockout | 45 |
| abstract_inverted_index.multiple | 22 |
| abstract_inverted_index.negative | 163 |
| abstract_inverted_index.opposite | 189 |
| abstract_inverted_index.overlap, | 43, 95 |
| abstract_inverted_index.patterns | 35 |
| abstract_inverted_index.proteins | 8 |
| abstract_inverted_index.provided | 153 |
| abstract_inverted_index.specific | 155 |
| abstract_inverted_index.spectrum | 206 |
| abstract_inverted_index.stature, | 197 |
| abstract_inverted_index.systems, | 24 |
| abstract_inverted_index.variable | 103 |
| abstract_inverted_index.variants | 120, 157 |
| abstract_inverted_index.anomalies | 107 |
| abstract_inverted_index.assessed. | 219 |
| abstract_inverted_index.callosum, | 61 |
| abstract_inverted_index.cognitive | 174 |
| abstract_inverted_index.deficits, | 98 |
| abstract_inverted_index.depending | 111 |
| abstract_inverted_index.disorders | 209 |
| abstract_inverted_index.exception | 151 |
| abstract_inverted_index.expanded, | 214 |
| abstract_inverted_index.important | 17 |
| abstract_inverted_index.including | 25, 55 |
| abstract_inverted_index.involved. | 116 |
| abstract_inverted_index.phenotype | 188 |
| abstract_inverted_index.redundant | 71 |
| abstract_inverted_index.represent | 9 |
| abstract_inverted_index.symptoms. | 149 |
| abstract_inverted_index.syndrome. | 181 |
| abstract_inverted_index.therefore | 125 |
| abstract_inverted_index.additional | 146 |
| abstract_inverted_index.anomalies, | 101 |
| abstract_inverted_index.associated | 185 |
| abstract_inverted_index.conditions | 139 |
| abstract_inverted_index.considered | 127 |
| abstract_inverted_index.disability | 132 |
| abstract_inverted_index.dysgenesis | 57 |
| abstract_inverted_index.dysplasia, | 179 |
| abstract_inverted_index.expression | 34 |
| abstract_inverted_index.impairment | 175 |
| abstract_inverted_index.individual | 137 |
| abstract_inverted_index.phenotypes | 82 |
| abstract_inverted_index.development | 20, 30 |
| abstract_inverted_index.individuals | 129 |
| abstract_inverted_index.overgrowth, | 135 |
| abstract_inverted_index.overgrowth. | 105 |
| abstract_inverted_index.overlapping | 52 |
| abstract_inverted_index.possibility | 118 |
| abstract_inverted_index.significant | 94 |
| abstract_inverted_index.ventricles, | 64 |
| abstract_inverted_index.development. | 75 |
| abstract_inverted_index.duplications | 183 |
| abstract_inverted_index.intellectual | 131 |
| abstract_inverted_index.recognizable | 169 |
| abstract_inverted_index.DNA‐binding | 7 |
| abstract_inverted_index.NFI‐related | 138, 208 |
| abstract_inverted_index.characterized | 194 |
| abstract_inverted_index.macrocephaly, | 99 |
| abstract_inverted_index.transcription | 13 |
| abstract_inverted_index.circumference, | 200 |
| abstract_inverted_index.differentiated | 141 |
| abstract_inverted_index.megalencephaly, | 56 |
| abstract_inverted_index.site‐specific | 6 |
| abstract_inverted_index.Marshall–Smith | 180 |
| abstract_inverted_index.haploinsufficiency | 85 |
| abstract_inverted_index.neurodevelopmental | 97 |
| abstract_inverted_index.haploinsufficiency, | 193 |
| cited_by_percentile_year.max | 100 |
| cited_by_percentile_year.min | 90 |
| corresponding_author_ids | https://openalex.org/A5019664227, https://openalex.org/A5016316722, https://openalex.org/A5048867599, https://openalex.org/A5029677862, https://openalex.org/A5037116171, https://openalex.org/A5076995639, https://openalex.org/A5054516309, https://openalex.org/A5063795903, https://openalex.org/A5028690309, https://openalex.org/A5024720316, https://openalex.org/A5072488516, https://openalex.org/A5086214764 |
| countries_distinct_count | 6 |
| institutions_distinct_count | 12 |
| corresponding_institution_ids | https://openalex.org/I1334415907, https://openalex.org/I165143802, https://openalex.org/I169381384, https://openalex.org/I2801952686, https://openalex.org/I4210098397, https://openalex.org/I4210155225, https://openalex.org/I63190737, https://openalex.org/I887064364, https://openalex.org/I95793202 |
| citation_normalized_percentile.value | 0.92146563 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |